{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T14:41:24Z","timestamp":1769438484866,"version":"3.49.0"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100022230","name":"Deanship of Scientific Research, Princess Nourah Bint Abdulrahman University","doi-asserted-by":"publisher","award":["PNURSP2025R304"],"award-info":[{"award-number":["PNURSP2025R304"]}],"id":[{"id":"10.13039\/501100022230","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-025-00812-z","type":"journal-article","created":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T07:35:42Z","timestamp":1740036942000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses"],"prefix":"10.1007","volume":"26","author":[{"given":"Mitesh","family":"Patel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reem","family":"Binsuwaidan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malvi","family":"Surti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nawaf","family":"Alshammari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angum M. M.","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohd","family":"Adnan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"issue":"01","key":"812_CR1","doi-asserted-by":"publisher","first-page":"073","DOI":"10.1055\/s-0038-1627471","volume":"38","author":"A Wick","year":"2018","unstructured":"Wick A, Plotkin S (2018) Neurofibromatosis and schwannomatosis. Semin Neurol 38(01):073\u2013085. https:\/\/doi.org\/10.1055\/s-0038-1627471","journal-title":"Semin Neurol"},{"issue":"2","key":"812_CR2","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s00439-016-1753-8","volume":"136","author":"H Kehrer-Sawatzki","year":"2017","unstructured":"Kehrer-Sawatzki H, Farschtschi S, Mautner V-F, Cooper DN (2017) The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet 136(2):129\u2013148. https:\/\/doi.org\/10.1007\/s00439-016-1753-8","journal-title":"Hum Genet"},{"issue":"6","key":"812_CR3","doi-asserted-by":"publisher","first-page":"e24448","DOI":"10.1002\/jcla.24448","volume":"36","author":"Y Li","year":"2022","unstructured":"Li Y, Chen L, Shao D, Zhang B, Xie S, Zheng X et al (2022) Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: a case report. J Clin Lab Anal 36(6):e24448. https:\/\/doi.org\/10.1002\/jcla.24448","journal-title":"J Clin Lab Anal"},{"issue":"11","key":"812_CR4","doi-asserted-by":"publisher","first-page":"5850","DOI":"10.3390\/ijms22115850","volume":"22","author":"R Tamura","year":"2021","unstructured":"Tamura R (2021) Current understanding of neurofibromatosis type 1, 2, and schwannomatosis. Int J Mol Sci 22(11):5850. https:\/\/doi.org\/10.3390\/ijms22115850","journal-title":"Int J Mol Sci"},{"issue":"10","key":"812_CR5","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1634\/theoncologist.2012-0162","volume":"17","author":"VL Merker","year":"2012","unstructured":"Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR (2012) Clinical features of schwannomatosis: a retrospective analysis of 87 patients. Oncologist 17(10):1317\u20131322. https:\/\/doi.org\/10.1634\/theoncologist.2012-0162","journal-title":"Oncologist"},{"issue":"10","key":"812_CR6","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.1002\/humu.24424","volume":"43","author":"C Perez-Becerril","year":"2022","unstructured":"Perez-Becerril C, Wallace AJ, Schlecht H, Bowers NL, Smith PT, Gokhale C et al (2022) Screening of potential novel candidate genes in schwannomatosis patients. Hum Mutat 43(10):1368\u20131376. https:\/\/doi.org\/10.1002\/humu.24424","journal-title":"Hum Mutat"},{"issue":"1","key":"812_CR7","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1186\/s13023-019-1176-4","volume":"14","author":"A Alaidarous","year":"2019","unstructured":"Alaidarous A, Parfait B, Ferkal S, Cohen J, Wolkenstein P, Mazereeuw-Hautier J (2019) Segmental schwannomatosis: characteristics in 12 patients. Orphanet J Rare Dis 14(1):207. https:\/\/doi.org\/10.1186\/s13023-019-1176-4","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"812_CR8","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1177\/1093526617749671","volume":"21","author":"BR Pawel","year":"2018","unstructured":"Pawel BR (2018) SMARCB1-deficient Tumors of Childhood: A Practical Guide. Pediatr Dev Pathol 21(1):6\u201328. https:\/\/doi.org\/10.1177\/1093526617749671","journal-title":"Pediatr Dev Pathol"},{"issue":"15","key":"812_CR9","doi-asserted-by":"publisher","first-page":"3645","DOI":"10.3390\/cancers14153645","volume":"14","author":"GW Cooper","year":"2022","unstructured":"Cooper GW, Hong AL (2022) SMARCB1-deficient cancers: Novel molecular insights and therapeutic vulnerabilities. Cancers (Basel) 14(15):3645 (https:\/\/www.mdpi.com\/2072-6694\/14\/15\/3645)","journal-title":"Cancers (Basel)"},{"key":"812_CR10","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1016\/j.semcancer.2019.09.018","volume":"61","author":"RM Chabanon","year":"2020","unstructured":"Chabanon RM, Morel D, Postel-Vinay S (2020) Exploiting epigenetic vulnerabilities in solid tumors: Novel therapeutic opportunities in the treatment of SWI\/SNF-defective cancers. Semin Cancer Biol 61:180\u2013198. https:\/\/doi.org\/10.1016\/j.semcancer.2019.09.018","journal-title":"Semin Cancer Biol"},{"issue":"3","key":"812_CR11","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1053\/j.semdp.2020.05.005","volume":"38","author":"I-M Schaefer","year":"2021","unstructured":"Schaefer I-M, Hornick JL (2021) SWI\/SNF complex-deficient soft tissue neoplasms: An update. Semin Diagn Pathol 38(3):222\u2013231. https:\/\/doi.org\/10.1053\/j.semdp.2020.05.005","journal-title":"Semin Diagn Pathol"},{"issue":"8","key":"812_CR12","doi-asserted-by":"publisher","first-page":"e240015","DOI":"10.1148\/rg.240015","volume":"44","author":"MC Lorca","year":"2024","unstructured":"Lorca MC, Huang J, Schafernak K, Biyyam D, Stanescu AL, Hull NC et al (2024) Malignant rhabdoid tumor and related pediatric tumors: Multimodality imaging review with pathologic correlation. Radiographics 44(8):e240015. https:\/\/doi.org\/10.1148\/rg.240015","journal-title":"Radiographics"},{"key":"812_CR13","doi-asserted-by":"publisher","first-page":"586288","DOI":"10.3389\/fonc.2021.586288","volume":"11","author":"D Baldo","year":"2021","unstructured":"Baldo D, Carta G, Alessi R, Merli I, Agolini P, Rinelli E et al (2021) Rhabdoid tumor predisposition syndrome: from clinical suspicion to general management. Front Oncol 11:586288","journal-title":"Front Oncol"},{"key":"812_CR14","doi-asserted-by":"publisher","first-page":"2626","DOI":"10.3390\/cells11172626","volume":"11","author":"D Savio","year":"2022","unstructured":"Savio D, Maestro E (2022) Beyond SMARCB1 loss: recent insights into the pathobiology of epithelioid sarcoma. Cells 11:2626","journal-title":"Cells"},{"issue":"6","key":"812_CR15","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1158\/1078-0432.CCR-23-2174","volume":"30","author":"TGP Gr\u00fcnewald","year":"2024","unstructured":"Gr\u00fcnewald TGP, Postel-Vinay S, Nakayama RT, Berlow NE, Bolzicco A, Cerullo V et al (2024) Translational aspects of epithelioid sarcoma: Current consensus. Clin Cancer Res 30(6):1079\u20131092. https:\/\/doi.org\/10.1158\/1078-0432.CCR-23-2174","journal-title":"Clin Cancer Res"},{"issue":"1","key":"812_CR16","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1186\/s12935-022-02757-x","volume":"22","author":"Y Li","year":"2022","unstructured":"Li Y, Yang X, Zhu W, Xu Y, Ma J, He C et al (2022) SWI\/SNF complex gene variations are associated with a higher tumor mutational burden and a better response to immune checkpoint inhibitor treatment: a pan-cancer analysis of next-generation sequencing data corresponding to 4591 cases. Cancer Cell Int 22(1):347. https:\/\/doi.org\/10.1186\/s12935-022-02757-x","journal-title":"Cancer Cell Int"},{"issue":"23","key":"812_CR17","doi-asserted-by":"publisher","first-page":"13937","DOI":"10.1080\/07391102.2023.2192793","volume":"41","author":"SR Wanarase","year":"2023","unstructured":"Wanarase SR, Chavan SV, Sharma S (2023) Evaluation of SNPs from human IGFBP6 associated with gene expression: an in-silico study. J Biomol Struct Dyn 41(23):13937\u201349. https:\/\/doi.org\/10.1080\/07391102.2023.2192793","journal-title":"J Biomol Struct Dyn"},{"issue":"1","key":"812_CR18","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1080\/19396368.2024.2325699","volume":"70","author":"V Thote","year":"2024","unstructured":"Thote V, Dinesh S, Sharma S (2024) Prediction of deleterious non-synonymous SNPs of human MDC1 gene: an in silico approach. Syst Biol Reprod Med 70(1):101\u2013112. https:\/\/doi.org\/10.1080\/19396368.2024.2325699","journal-title":"Syst Biol Reprod Med"},{"issue":"1","key":"812_CR19","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM et al (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29(1):308\u2013311. https:\/\/doi.org\/10.1093\/nar\/29.1.308","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"812_CR20","doi-asserted-by":"publisher","first-page":"D523","DOI":"10.1093\/nar\/gkac1052","volume":"51","author":"UniProt Consortium","year":"2023","unstructured":"UniProt Consortium (2023) UniProt: The universal protein knowledgebase in 2023. Nucleic Acids Res 51(D1):D523\u2013D531. https:\/\/doi.org\/10.1093\/nar\/gkac1052","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"812_CR21","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1007\/s40203-024-00191-7","volume":"12","author":"S Bhor","year":"2024","unstructured":"Bhor S, Tonny SH, Dinesh S, Sharma S (2024) Computational screening of damaging nsSNPs in human SOD1 genes associated with amyotrophic lateral sclerosis identifies destabilising effects of G38R and G42D mutations through in silico evaluation. In Silico Pharmacol 12(1):20. https:\/\/doi.org\/10.1007\/s40203-024-00191-7","journal-title":"In Silico Pharmacol"},{"issue":"1","key":"812_CR22","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/0471142905.hg0720s76","volume":"7","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 7(1):7\u201320. https:\/\/doi.org\/10.1002\/0471142905.hg0720s76","journal-title":"Curr Protoc Hum Genet"},{"issue":"21","key":"812_CR23","doi-asserted-by":"publisher","first-page":"11889","DOI":"10.1080\/07391102.2022.2164060","volume":"41","author":"A Hoda","year":"2023","unstructured":"Hoda A, Lika\u00c7ekani M, Kolaneci V (2023) Identification of deleterious nsSNPs in human HGF gene: in silico approach. J Biomol Struct Dyn 41(21):11889\u201311903. https:\/\/doi.org\/10.1080\/07391102.2022.2164060","journal-title":"J Biomol Struct Dyn"},{"issue":"3","key":"812_CR24","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1093\/bioinformatics\/btx536","volume":"34","author":"MF Rogers","year":"2018","unstructured":"Rogers MF, Shihab HA, Mort M, Cooper DN, Gaunt TR, Campbell C (2018) FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. Bioinformatics 34(3):511\u2013513. https:\/\/doi.org\/10.1093\/bioinformatics\/btx536","journal-title":"Bioinformatics"},{"issue":"1","key":"812_CR25","doi-asserted-by":"publisher","first-page":"18986","DOI":"10.1038\/s41598-023-46250-5","volume":"13","author":"EA Al-Ayari","year":"2023","unstructured":"Al-Ayari EA, Shehata MG, El-Hadidi M, Shaalan MG (2023) In silico SNP prediction of selected protein orthologues in insect models for Alzheimer\u2019s, Parkinson\u2019s, and Huntington\u2019s diseases. Sci Rep 13(1):18986. https:\/\/doi.org\/10.1038\/s41598-023-46250-5","journal-title":"Sci Rep"},{"issue":"11","key":"812_CR26","doi-asserted-by":"publisher","first-page":"3823","DOI":"10.1093\/nar\/gkm238","volume":"35","author":"Y Bromberg","year":"2007","unstructured":"Bromberg Y, Rost B (2007) SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35(11):3823\u20133835. https:\/\/doi.org\/10.1093\/nar\/gkm238","journal-title":"Nucleic Acids Res"},{"issue":"14","key":"812_CR27","doi-asserted-by":"publisher","first-page":"2230","DOI":"10.1093\/bioinformatics\/btw222","volume":"32","author":"H Tang","year":"2016","unstructured":"Tang H, Thomas PD (2016) PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation. Bioinformatics 32(14):2230\u20132232. https:\/\/doi.org\/10.1093\/bioinformatics\/btw222","journal-title":"Bioinformatics"},{"issue":"Web Server issu","key":"812_CR28","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"N-L Sim","year":"2012","unstructured":"Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40(Web Server issue):W452-7. https:\/\/doi.org\/10.1093\/nar\/gks539","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"812_CR29","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1158\/2643-3230.BCD-21-0144","volume":"3","author":"J Ibarra","year":"2022","unstructured":"Ibarra J, Elbanna YA, Kurylowicz K, Ciboddo M, Greenbaum HS, Arellano NS et al (2022) Type I but not type II calreticulin mutations activate the IRE1\u03b1\/XBP1 pathway of the unfolded protein response to drive myeloproliferative neoplasms. Blood Cancer Discov 3(4):298\u2013315. https:\/\/doi.org\/10.1158\/2643-3230.BCD-21-0144","journal-title":"Blood Cancer Discov"},{"issue":"2","key":"812_CR30","doi-asserted-by":"publisher","first-page":"152187","DOI":"10.1016\/j.imbio.2022.152187","volume":"227","author":"EL de Moura","year":"2022","unstructured":"de Moura EL, Santos IFD, de Freitas PP, da Silva DM, Santos ACMD, Lira Neto AB et al (2022) Polymorphisms in Toll-like receptors genes changes the host\u2019s immune response and is associated with cervical cancer. Immunobiology 227(2):152187. https:\/\/doi.org\/10.1016\/j.imbio.2022.152187","journal-title":"Immunobiology"},{"issue":"S2","key":"812_CR31","doi-asserted-by":"publisher","first-page":"S5","DOI":"10.1186\/1471-2105-14-S2-S5","volume":"14","author":"C-W Chen","year":"2013","unstructured":"Chen C-W, Lin J, Chu Y-W (2013) iStable: off-the-shelf predictor integration for predicting protein stability changes. BMC Bioinformatics 14(S2):S5. https:\/\/doi.org\/10.1186\/1471-2105-14-S2-S5","journal-title":"BMC Bioinformatics"},{"issue":"1","key":"812_CR32","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/pro.3942","volume":"30","author":"CHM Rodrigues","year":"2021","unstructured":"Rodrigues CHM, Pires DEV, Ascher DB (2021) DynaMut2: Assessing changes in stability and flexibility upon single and multiple point missense mutations. Protein Sci 30(1):60\u201369. https:\/\/doi.org\/10.1002\/pro.3942","journal-title":"Protein Sci"},{"issue":"1","key":"812_CR33","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1186\/s12859-022-05025-x","volume":"23","author":"Y Zhou","year":"2022","unstructured":"Zhou Y, Leung AW-S, Ahmed SS, Lam T-W, Luo R (2022) Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing. BMC Bioinformatics 23(1):465. https:\/\/doi.org\/10.1186\/s12859-022-05025-x","journal-title":"BMC Bioinformatics"},{"issue":"11","key":"812_CR34","doi-asserted-by":"publisher","first-page":"1376","DOI":"10.1038\/s41592-022-01645-6","volume":"19","author":"TC Terwilliger","year":"2022","unstructured":"Terwilliger TC, Poon BK, Afonine PV, Schlicksup CJ, Croll TI, Mill\u00e1n C et al (2022) Improved AlphaFold modeling with implicit experimental information. Nat Methods 19(11):1376\u20131382. https:\/\/doi.org\/10.1038\/s41592-022-01645-6","journal-title":"Nat Methods"},{"issue":"12","key":"812_CR35","doi-asserted-by":"publisher","first-page":"1764","DOI":"10.3390\/biom12121764","volume":"12","author":"S Rosignoli","year":"2022","unstructured":"Rosignoli S, Paiardini A (2022) Boosting the full potential of PyMOL with structural biology plugins. Biomolecules 12(12):1764. https:\/\/doi.org\/10.3390\/biom12121764","journal-title":"Biomolecules"},{"key":"812_CR36","first-page":"173","volume":"15","author":"BR Jayasurya","year":"2023","unstructured":"Jayasurya BR, Swathy JS, Dinesh S, Sharma S (2023) Molecular docking and investigation of Boswellia serrata phytocompounds as cancer therapeutics to target growth factor receptors: An in silico approach. Int J Appl Pharm 15:173\u201383","journal-title":"Int J Appl Pharm"},{"issue":"104695","key":"812_CR37","doi-asserted-by":"publisher","first-page":"104695","DOI":"10.1016\/j.compbiomed.2021.104695","volume":"136","author":"S Saxena","year":"2021","unstructured":"Saxena S, Achyuth BS, Murthy TPK, Chandramohan V, Yadav AK, Singh TR (2021) Structural and functional analysis of disease-associated mutations in GOT1 gene: An in silico study. Comput Biol Med 136(104695):104695. https:\/\/doi.org\/10.1016\/j.compbiomed.2021.104695","journal-title":"Comput Biol Med"},{"issue":"13","key":"812_CR38","doi-asserted-by":"publisher","first-page":"4618","DOI":"10.1080\/07391102.2020.1779129","volume":"39","author":"DSNBK Prasanth","year":"2021","unstructured":"Prasanth DSNBK, Murahari M, Chandramohan V, Panda SP, Atmakuri LR, Guntupalli C (2021) In silico identification of potential inhibitors from Cinnamon against main protease and spike glycoprotein of SARS CoV-2. J Biomol Struct Dyn 39(13):4618\u201332. https:\/\/doi.org\/10.1080\/07391102.2020.1779129","journal-title":"J Biomol Struct Dyn"},{"issue":"1","key":"812_CR39","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1080\/07391102.2021.2005680","volume":"41","author":"A Malik","year":"2023","unstructured":"Malik A, Kohli M, Jacob NA, Kayal A, Raj TK, Kulkarni N et al (2023) In silico screening of phytochemical compounds and FDA drugs as potential inhibitors for NSP16\/10 5\u2019 methyl transferase activity. J Biomol Struct Dyn 41(1):221\u2013233. https:\/\/doi.org\/10.1080\/07391102.2021.2005680","journal-title":"J Biomol Struct Dyn"},{"issue":"13","key":"812_CR40","doi-asserted-by":"publisher","first-page":"3757","DOI":"10.1080\/07391102.2019.1667265","volume":"38","author":"BS Gangadharappa","year":"2020","unstructured":"Gangadharappa BS, Sharath R, Revanasiddappa PD, Chandramohan V, Balasubramaniam M, Vardhineni TP (2020) Structural insights of metallo-beta-lactamase revealed an effective way of inhibition of enzyme by natural inhibitors. J Biomol Struct Dyn 38(13):3757\u20133771. https:\/\/doi.org\/10.1080\/07391102.2019.1667265","journal-title":"J Biomol Struct Dyn"},{"issue":"104326","key":"812_CR41","doi-asserted-by":"publisher","first-page":"104326","DOI":"10.1016\/j.chemolab.2021.104326","volume":"215","author":"F Ge","year":"2021","unstructured":"Ge F, Muhammad A, Yu D-J (2021) DeepnsSNPs: Accurate prediction of non-synonymous single-nucleotide polymorphisms by combining multi-scale convolutional neural network and residue environment information. Chemometr Intell Lab Syst 215(104326):104326. https:\/\/doi.org\/10.1016\/j.chemolab.2021.104326","journal-title":"Chemometr Intell Lab Syst"},{"issue":"13","key":"812_CR42","doi-asserted-by":"publisher","first-page":"2449","DOI":"10.1016\/j.jmb.2019.02.017","volume":"431","author":"L Quan","year":"2019","unstructured":"Quan L, Wu H, Lyu Q, Zhang Y (2019) DAMpred: Recognizing disease-associated nsSNPs through Bayes-guided neural-network model built on low-resolution structure prediction of proteins and protein-protein interactions. J Mol Biol 431(13):2449\u20132459. https:\/\/doi.org\/10.1016\/j.jmb.2019.02.017","journal-title":"J Mol Biol"},{"key":"812_CR43","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.gene.2018.09.028","volume":"680","author":"MS Hassan","year":"2018","unstructured":"Hassan MS, Shaalan AA, Dessouky MI, Abdelnaiem AE, ElHefnawi M (2018) A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases. Gene 680:20\u201333. https:\/\/doi.org\/10.1016\/j.gene.2018.09.028","journal-title":"Gene"},{"issue":"3","key":"812_CR44","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1093\/bib\/bbz047","volume":"21","author":"N Cheng","year":"2020","unstructured":"Cheng N, Li M, Zhao L, Zhang B, Yang Y, Zheng C-H et al (2020) Comparison and integration of computational methods for deleterious synonymous mutation prediction. Brief Bioinform 21(3):970\u2013981. https:\/\/doi.org\/10.1093\/bib\/bbz047","journal-title":"Brief Bioinform"},{"issue":"3","key":"812_CR45","doi-asserted-by":"publisher","first-page":"650","DOI":"10.3390\/biomedicines10030650","volume":"10","author":"C Ngo","year":"2022","unstructured":"Ngo C, Postel-Vinay S (2022) Immunotherapy for SMARCB1-deficient sarcomas: Current evidence and future developments. Biomedicines 10(3):650 (https:\/\/www.mdpi.com\/2227-9059\/10\/3\/650)","journal-title":"Biomedicines"},{"issue":"3","key":"812_CR46","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1073\/pnas.95.3.1120","volume":"95","author":"A Morozov","year":"1998","unstructured":"Morozov A, Yung E, Kalpana GV (1998) Structure-function analysis of integrase interactor 1\/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. Proc Natl Acad Sci U S A 95(3):1120\u20131125. https:\/\/doi.org\/10.1073\/pnas.95.3.1120","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"812_CR47","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/ng.374","volume":"49","author":"X Wang","year":"2017","unstructured":"Wang X, Lee RS, Alver BH, Haswell JR, Wang S, Mieczkowski J et al (2017) SMARCB1-mediated SWI\/SNF complex function is essential for enhancer regulation. Nat Genet 49(2):289\u2013295. https:\/\/doi.org\/10.1038\/ng.374","journal-title":"Nat Genet"},{"key":"812_CR48","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/cas.13173","volume":"108","author":"K Kohashi","year":"2017","unstructured":"Kohashi K, Oda Y (2017) Oncogenic roles of SMARCB 1\/INI 1 and its deficient tumors. Cancer Sci 108:547\u2013552","journal-title":"Cancer Sci"},{"key":"812_CR49","unstructured":"VCV000825898.14 - ClinVar - NCBI. Nih.gov. [cited 2024 Sep 1]. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/825898\/?oq=rs1601405064&m=NM_003073.5(SMARCB1):c.568C%3ET%20(p.Arg190Trp).\u00a0Accessed 17 Oct 2024"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00812-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-025-00812-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00812-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:04:58Z","timestamp":1769400298000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-025-00812-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,20]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["812"],"URL":"https:\/\/doi.org\/10.1007\/s10048-025-00812-z","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,20]]},"assertion":[{"value":"9 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}],"article-number":"31"}}