{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T14:45:16Z","timestamp":1782830716828,"version":"3.54.5"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:00:00Z","timestamp":1782777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1007\/s00438-026-02480-6","type":"journal-article","created":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T13:56:28Z","timestamp":1782827788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis"],"prefix":"10.1007","volume":"301","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9470-7698","authenticated-orcid":false,"given":"Rimsha","family":"Zulfiqar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7969-0600","authenticated-orcid":false,"given":"Ambreen","family":"Kanwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7783-6292","authenticated-orcid":false,"given":"Maham","family":"Hameed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Iftikhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1912-0235","authenticated-orcid":false,"given":"Sadaf","family":"Naz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,30]]},"reference":[{"issue":"1","key":"2480_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.17712\/nsj.2020.1.20190103","volume":"25","author":"FZ Alkhars","year":"2020","unstructured":"Alkhars FZ, Ali AYB et al (2020) Neuronal ceroid lipofuscinoses type 8: expanding genotype\/phenotype diversity-first report from Saudi Arabia. Neurosci J 25(1):65\u201369. https:\/\/doi.org\/10.17712\/nsj.2020.1.20190103","journal-title":"Neurosci J"},{"issue":"7","key":"2480_CR2","doi-asserted-by":"publisher","first-page":"956","DOI":"10.3390\/genes12070956","volume":"12","author":"M Badura-Stronka","year":"2021","unstructured":"Badura-Stronka M, Winczewska-Wiktor A et al (2021) CLN8 mutations presenting with a phenotypic continuum of neuronal ceroid lipofuscinosis\u2014literature review and case report. Genes 12(7):956. https:\/\/doi.org\/10.3390\/genes12070956","journal-title":"Genes"},{"issue":"8","key":"2480_CR3","doi-asserted-by":"publisher","first-page":"4118","DOI":"10.1172\/JCI130955","volume":"130","author":"L Bajaj","year":"2020","unstructured":"Bajaj L, Sharma J et al (2020) A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Investig 130(8):4118\u20134132. https:\/\/doi.org\/10.1172\/JCI130955","journal-title":"J Clin Investig"},{"key":"2480_CR4","doi-asserted-by":"publisher","first-page":"1379254","DOI":"10.3389\/fped.2024.1379254","volume":"12","author":"F Baltar","year":"2024","unstructured":"Baltar F, Simoes C et al (2024) Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report. Front Pediatr 12:1379254. https:\/\/doi.org\/10.3389\/fped.2024.1379254","journal-title":"Front Pediatr"},{"issue":"1","key":"2480_CR5","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/mgg3.263","volume":"5","author":"C Beesley","year":"2017","unstructured":"Beesley C, Guerreiro RJ et al (2017) CLN 8 disease caused by large genomic deletions. Mol Genet Genomic Med 5(1):85\u201391. https:\/\/doi.org\/10.1002\/mgg3.263","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"2480_CR6","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00439-022-02440-1","volume":"141","author":"F Bu","year":"2022","unstructured":"Bu F, Zhong M et al (2022) DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. Hum Genet 141(3):401\u2013411. https:\/\/doi.org\/10.1007\/s00439-022-02440-1","journal-title":"Hum Genet"},{"issue":"1","key":"2480_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-244X-14-75","volume":"14","author":"MJ Clancy","year":"2014","unstructured":"Clancy MJ, Clarke MC et al (2014) The prevalence of psychosis in epilepsy; a systematic review and meta-analysis. BMC Psychiatr 14(1):1\u20139. https:\/\/doi.org\/10.1186\/1471-244X-14-75","journal-title":"BMC Psychiatr"},{"issue":"12","key":"2480_CR8","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1038\/s41556-018-0228-7","volume":"20","author":"A di Ronza","year":"2018","unstructured":"di Ronza A, Bajaj L et al (2018) CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. Nat Cell Biol 20(12):1370\u20131377. https:\/\/doi.org\/10.1038\/s41556-018-0228-7","journal-title":"Nat Cell Biol"},{"issue":"3","key":"2480_CR9","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.neunet.2019.01.012","volume":"42","author":"KP Drude","year":"2019","unstructured":"Drude KP, Maheu M et al (2019) Continuing professional development: Reflections on a lifelong learning process. Psychiatr Clin 42(3):447\u2013461. https:\/\/doi.org\/10.1016\/j.neunet.2019.01.012","journal-title":"Psychiatr Clin"},{"issue":"3","key":"2480_CR10","doi-asserted-by":"publisher","first-page":"e0119413","DOI":"10.1371\/journal.pone.0119413","volume":"10","author":"J Egawa","year":"2015","unstructured":"Egawa J, Watanabe Y et al (2015) Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population. PLoS ONE 10(3):e0119413. https:\/\/doi.org\/10.1371\/journal.pone.0119413","journal-title":"PLoS ONE"},{"issue":"1","key":"2480_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/21646821.2018.1428455","volume":"58","author":"RS Fisher","year":"2018","unstructured":"Fisher RS, Bonner AM (2018) The revised definition and classification of epilepsy for neurodiagnostic technologists. Neurodiagn J 58(1):1\u201310. https:\/\/doi.org\/10.1080\/21646821.2018.1428455","journal-title":"Neurodiagn J"},{"issue":"3","key":"2480_CR12","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","volume":"12","author":"MF Folstein","year":"1975","unstructured":"Folstein MF, Folstein SE et al (1975) Mini-mental state: a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12(3):189\u2013198","journal-title":"J Psychiatr Res"},{"key":"2480_CR13","doi-asserted-by":"publisher","first-page":"754045","DOI":"10.3389\/fneur.2021.754045","volume":"12","author":"E Gardner","year":"2021","unstructured":"Gardner E, Mole SE (2021) The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses. Front Neurol 12:754045. https:\/\/doi.org\/10.3389\/fneur.2021.754045","journal-title":"Front Neurol"},{"issue":"5","key":"2480_CR14","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1002\/humu.22768","volume":"36","author":"DG Grimm","year":"2015","unstructured":"Grimm DG, Azencott CA et al (2015) The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat 36(5):513\u2013523. https:\/\/doi.org\/10.1002\/humu.22768","journal-title":"Hum Mutat"},{"issue":"3","key":"2480_CR15","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1108\/RR-10-2013-0256","volume":"28","author":"M Guha","year":"2014","unstructured":"Guha M (2014) Diagnostic and statistical manual of mental disorders: DSM-5. Ref Rev 28(3):36\u201337. https:\/\/doi.org\/10.1108\/RR-10-2013-0256","journal-title":"Ref Reviews"},{"issue":"12 Pt 2","key":"2480_CR16","first-page":"21","volume":"41","author":"M Hamilton","year":"1980","unstructured":"Hamilton M (1980) Rating depressive patients. J Clin Psychiatr 41(12 Pt 2):21\u201324","journal-title":"J Clin Psychiatr"},{"issue":"3","key":"2480_CR17","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1111\/j.1471-4159.2005.03376.x","volume":"95","author":"M Hermansson","year":"2005","unstructured":"Hermansson M, K\u00e4kel\u00e4 R et al (2005) Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. J Neurochem 95(3):609\u2013617. https:\/\/doi.org\/10.1111\/j.1471-4159.2005.03376.x","journal-title":"J Neurochem"},{"issue":"2","key":"2480_CR18","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/j.1750-3639.2000.tb00255.x","volume":"10","author":"R Herva","year":"2000","unstructured":"Herva R, Tyynel\u00e4 J et al (2000) Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Brain Pathol 10(2):215\u2013222. https:\/\/doi.org\/10.1111\/j.1750-3639.2000.tb00255.x","journal-title":"Brain Pathol"},{"issue":"3","key":"2480_CR19","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1136\/jmg.31.3.177","volume":"31","author":"A Hirvasniemi","year":"1994","unstructured":"Hirvasniemi A, Lang H et al (1994) Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 31(3):177\u2013182. https:\/\/doi.org\/10.1136\/jmg.31.3.177","journal-title":"J Med Genet"},{"issue":"4","key":"2480_CR20","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1016\/j.bbamcr.2008.11.004","volume":"1793","author":"A Jalanko","year":"2009","unstructured":"Jalanko A, Braulke T (2009) Neuronal ceroid lipofuscinoses. Biochim et Biophys. Acta-Mol Cell Res 1793(4):697\u2013709. https:\/\/doi.org\/10.1016\/j.bbamcr.2008.11.004","journal-title":"Acta-Mol Cell Res"},{"issue":"10","key":"2480_CR21","doi-asserted-by":"publisher","first-page":"5729","DOI":"10.3390\/ijms23105729","volume":"23","author":"K Kamini\u00f3w","year":"2022","unstructured":"Kamini\u00f3w K, Kozak S et al (2022) Recent insight into the genetic basis, clinical features, and diagnostic methods for neuronal ceroid lipofuscinosis. Int J Mol Sci 23(10):5729. https:\/\/doi.org\/10.3390\/ijms23105729","journal-title":"Int J Mol Sci"},{"issue":"3","key":"2480_CR22","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1016\/j.braindev.2015.09.008","volume":"38","author":"Y Katata","year":"2016","unstructured":"Katata Y, Uematsu M et al (2016) Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: the first report of a CLN8 mutation in Japan. Brain Dev 38(3):341\u2013345. https:\/\/doi.org\/10.1016\/j.braindev.2015.09.008","journal-title":"Brain Dev"},{"issue":"4","key":"2480_CR23","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/0010-440X(91)90085-Q","volume":"32","author":"SR Kay","year":"1991","unstructured":"Kay SR, Opler LA et al (1991) SCID-PANSS: two-tier diagnostic system for psychotic disorders. Compr Psychiatr 32(4):355\u2013361. https:\/\/doi.org\/10.1016\/0010-440X(91)90085-Q","journal-title":"Compr Psychiatry"},{"key":"2480_CR24","doi-asserted-by":"publisher","first-page":"981005","DOI":"10.3389\/fgene.2022.981005","volume":"13","author":"Y Liu","year":"2022","unstructured":"Liu Y, Yeung WS et al (2022) Computational approaches for predicting variant impact: an overview from resources, principles to applications. Front Genet 13:981005. https:\/\/doi.org\/10.3389\/fgene.2022.981005","journal-title":"Front Genet"},{"key":"2480_CR25","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/B978-0-444-64012-3.00012-5","volume":"165","author":"M Maguire","year":"2019","unstructured":"Maguire M (2019) The psychopharmacology of epilepsy. Handb Clin Neurol 165:207\u2013227. https:\/\/doi.org\/10.1016\/B978-0-444-64012-3.00012-5","journal-title":"Handb Clin Neurol"},{"issue":"2","key":"2480_CR26","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.ajhg.2011.07.003","volume":"89","author":"L Noskov\u00e1","year":"2011","unstructured":"Noskov\u00e1 L, Str\u00e1neck\u00fd V et al (2011) Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Amer J Hum Genet 89(2):241\u2013252. https:\/\/doi.org\/10.1016\/j.ajhg.2011.07.003","journal-title":"Amer J Hum Genet"},{"issue":"11","key":"2480_CR27","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1001\/archpsyc.1994.03950110009002","volume":"51","author":"JI Nurnberger","year":"1994","unstructured":"Nurnberger JI, Blehar MC et al (1994) Diagnostic interview for genetic studies: rationale, unique features, and training. Arch Gen Psychiatr 51(11):849\u2013859. https:\/\/doi.org\/10.1001\/archpsyc.1994.03950110009002","journal-title":"Arch Gen Psychiatry"},{"issue":"1","key":"2480_CR28","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1177\/15357597209542","volume":"21","author":"P Perucca","year":"2021","unstructured":"Perucca P, Scheffer IE (2021) Genetic contributions to acquired epilepsies. Epilepsy Curr 21(1):5\u201313. https:\/\/doi.org\/10.1177\/15357597209542","journal-title":"Epilepsy Curr"},{"issue":"10","key":"2480_CR29","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1111\/boc.202000016","volume":"113","author":"F Pesaola","year":"2021","unstructured":"Pesaola F, Quassollo G et al (2021) The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo\u2010lysosomal dynamics and dendritic morphology. Biol Cell 113(10):419\u2013437. https:\/\/doi.org\/10.1111\/boc.202000016","journal-title":"Biol Cell"},{"issue":"3","key":"2480_CR30","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2022.01.006","volume":"109","author":"M Quinodoz","year":"2022","unstructured":"Quinodoz M, Peter VG et al (2022) Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. Amer J Hum Genet 109(3):457\u2013470. https:\/\/doi.org\/10.1016\/j.ajhg.2022.01.006","journal-title":"Amer J Hum Genet"},{"issue":"3","key":"2480_CR31","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1016\/j.ajhg.2021.01.015","volume":"108","author":"FC Radio","year":"2021","unstructured":"Radio FC, Pang K et al (2021) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Amer J Hum Genet 108(3):502\u2013516. https:\/\/doi.org\/10.1016\/j.ajhg.2021.01.015","journal-title":"Amer J Hum Genet"},{"issue":"4","key":"2480_CR32","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/humu.20018","volume":"23","author":"S Ranta","year":"2004","unstructured":"Ranta S, Topcu M et al (2004) Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 23(4):300\u2013305. https:\/\/doi.org\/10.1002\/humu.20018","journal-title":"Hum Mutat"},{"issue":"1","key":"2480_CR33","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/j.1399-0004.2009.01285.x","volume":"77","author":"K Reinhardt","year":"2010","unstructured":"Reinhardt K, Grapp M et al (2010) Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet 77(1):79\u201385. https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01285.x","journal-title":"Clin Genet"},{"key":"2480_CR34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1172-8-19","volume":"8","author":"FM Santorelli","year":"2013","unstructured":"Santorelli FM, Garavaglia B et al (2013) Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Orphanet J Rare Dis 8:1\u20137. https:\/\/doi.org\/10.1186\/1750-1172-8-19","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"2480_CR35","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1016\/j.bbadis.2013.04.008","volume":"1832","author":"A Schulz","year":"2013","unstructured":"Schulz A, Kohlsch\u00fctter A et al (2013) NCL diseases\u2014clinical perspectives. Biochim Biophys Acta Mol Basis Dis 1832(11):1801\u20131806. https:\/\/doi.org\/10.1016\/j.bbadis.2013.04.008","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"2480_CR36","volume-title":"Diagnostic Interview for Psychosis and Affective Disorders (DI-PAD)","author":"R Semple","year":"2008","unstructured":"Semple R (2008) Diagnostic interview for psychosis and affective disorders (DI-PAD). University of Southern California, Los Angeles"},{"issue":"8","key":"2480_CR37","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.3390\/genes13081393","volume":"13","author":"R Sharkia","year":"2022","unstructured":"Sharkia R, Zalan A et al (2022) CLN8 gene compound heterozygous variants: a new case and protein bioinformatics analyses. Genes 13(8):1393. https:\/\/doi.org\/10.3390\/genes13081393","journal-title":"Genes"},{"issue":"8","key":"2480_CR38","doi-asserted-by":"publisher","first-page":"eadr3723","DOI":"10.1126\/sciadv.adr3723","volume":"11","author":"PK Sheokand","year":"2025","unstructured":"Sheokand PK, James AM et al (2025) TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition. Sci Adv 11(8):eadr3723. https:\/\/doi.org\/10.1126\/sciadv.adr3723","journal-title":"Sci Adv"},{"issue":"7","key":"2480_CR39","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1002\/humu.21012","volume":"30","author":"C Vantaggiato","year":"2009","unstructured":"Vantaggiato C, Redaelli F et al (2009) A novel CLN8 mutation in late-infantile\u2010onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat 30(7):1104\u20131116. https:\/\/doi.org\/10.1002\/humu.21012","journal-title":"Hum Mutat"},{"issue":"4","key":"2480_CR40","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1006\/mgme.1999.2804","volume":"66","author":"R Wheeler","year":"1999","unstructured":"Wheeler R, Sharp J et al (1999) A new locus for variant late infantile neuronal ceroid lipofuscinosis\u2014CLN7. Mol Genet Metab 66(4):337\u2013338. https:\/\/doi.org\/10.1006\/mgme.1999.2804","journal-title":"Mol Genet Metab"},{"issue":"17","key":"2480_CR41","doi-asserted-by":"publisher","first-page":"e88","DOI":"10.1093\/nar\/29.17.e88","volume":"29","author":"S Ye","year":"2001","unstructured":"Ye S, Dhillon S et al (2001) An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 29(17):e88\u2013e88. https:\/\/doi.org\/10.1093\/nar\/29.17.e88","journal-title":"Nucleic Acids Res"},{"key":"2480_CR42","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1146\/annurev-med-052218-125823","volume":"71","author":"L Yehia","year":"2020","unstructured":"Yehia L, Keel E et al (2020) The clinical spectrum of PTEN mutations. Annu Rev Med 71:103\u2013116. https:\/\/doi.org\/10.1146\/annurev-med-052218-125823","journal-title":"Annu Rev Med"},{"issue":"4","key":"2480_CR43","doi-asserted-by":"publisher","first-page":"586","DOI":"10.2144\/96214bm04","volume":"21","author":"KY Zhu","year":"1996","unstructured":"Zhu KY, Clark JM (1996) Addition of a competitive primer can dramatically improve the specificity of PCR amplification of specific alleles. Biotechniques 21(4):586\u2013590. https:\/\/doi.org\/10.2144\/96214bm04","journal-title":"Biotechniques"},{"issue":"11","key":"2480_CR44","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1038\/s41582-025-01132-4","volume":"21","author":"EA Zi\u00f3\u0142kowska","year":"2025","unstructured":"Zi\u00f3\u0142kowska EA, Takahashi K et al (2025) Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. Nat Rev Neurol 21(11):606\u2013622. https:\/\/doi.org\/10.1038\/s41582-025-01132-4","journal-title":"Nat Rev Neurol"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-026-02480-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-026-02480-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-026-02480-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T13:56:29Z","timestamp":1782827789000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-026-02480-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,30]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["2480"],"URL":"https:\/\/doi.org\/10.1007\/s00438-026-02480-6","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,30]]},"assertion":[{"value":"9 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"GHS is an employee of 3\u00a0billion, Inc. All other authors declare no conflicts of interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All studies have been approved by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Ethical approval for the study was obtained from the Institutional Review Board (IRB#00005281) at the School of Biological Sciences, University of the Punjab, Lahore, Pakistan.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consents were obtained from the participants or their legal guardians in case of ongoing symptoms in patients.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate and publish"}}],"article-number":"152"}}