{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:45:34Z","timestamp":1790642734523,"version":"4.1.0"},"reference-count":62,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82473063"],"award-info":[{"award-number":["82473063"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82172348"],"award-info":[{"award-number":["82172348"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2022YFC3602301"],"award-info":[{"award-number":["2022YFC3602301"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2022YFC3602300"],"award-info":[{"award-number":["2022YFC3602300"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2022YFC3602302"],"award-info":[{"award-number":["2022YFC3602302"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jthjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Thrombosis and Haemostasis"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1016\/j.jtha.2026.02.011","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T16:26:02Z","timestamp":1772641562000},"page":"2142-2157","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Functional impact of PROC variants on splicing and protein C activity: evidence for clinical reclassification and RNA therapeutic approaches"],"prefix":"10.1016","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5207-8932","authenticated-orcid":false,"given":"Huayang","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baishen","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meixiu","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beili","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jtha.2026.02.011_bib1","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.5858\/arpa.2017-0403-RS","article-title":"Protein C deficiency","volume":"143","author":"Dinarvand","year":"2019","journal-title":"Arch Pathol Lab Med"},{"key":"10.1016\/j.jtha.2026.02.011_bib2","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1111\/j.1365-2516.2008.01838.x","article-title":"Protein C deficiency","volume":"14","author":"Goldenberg","year":"2008","journal-title":"Haemophilia"},{"key":"10.1016\/j.jtha.2026.02.011_bib3","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1111\/j.1538-7836.2010.03840.x","article-title":"A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin","volume":"8","author":"Mahmoodi","year":"2010","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib4","first-page":"646","article-title":"Molecular genetic analysis of severe protein C deficiency","volume":"106","author":"Millar","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib5","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1111\/jth.15732","article-title":"Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH","volume":"20","author":"Minford","year":"2022","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib6","doi-asserted-by":"crossref","DOI":"10.1177\/1076029620912028","article-title":"Laboratory limitations of excluding hereditary protein C deficiency by chromogenic assay: discrepancies of phenotype and genotype","volume":"26","author":"Seidel","year":"2020","journal-title":"Clin Appl Thromb Hemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib7","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1055\/s-0040-1714100","article-title":"Genotype\u2013phenotype relationships in a large French cohort of subjects with inherited protein C deficiency","volume":"120","author":"Alhenc-Gelas","year":"2020","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib8","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1073\/pnas.82.14.4673","article-title":"The nucleotide sequence of the gene for human protein C","volume":"82","author":"Foster","year":"1985","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jtha.2026.02.011_bib9","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1073\/pnas.83.3.546","article-title":"Evolution and organization of the human protein C gene","volume":"83","author":"Plutzky","year":"1986","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jtha.2026.02.011_bib10","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1016\/j.jtha.2025.07.030","article-title":"Novel insights into inherited protein C deficiency from an interactive PROC variant database","volume":"23","author":"Zhang","year":"2025","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib11","article-title":"Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity","volume":"2","author":"Hirschi","year":"2024","journal-title":"Genet Med Open"},{"key":"10.1016\/j.jtha.2026.02.011_bib12","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1038\/s41436-020-0766-9","article-title":"Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance","volume":"22","author":"Wai","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.jtha.2026.02.011_bib13","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S0968-0004(00)01549-8","article-title":"Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases","volume":"25","author":"Blencowe","year":"2000","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.jtha.2026.02.011_bib14","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.cell.2004.11.010","article-title":"Systematic identification and analysis of exonic splicing silencers","volume":"119","author":"Wang","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.jtha.2026.02.011_bib15","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1042\/BJ20081501","article-title":"The SR protein family of splicing factors: master regulators of gene expression","volume":"417","author":"Long","year":"2009","journal-title":"Biochem J"},{"key":"10.1016\/j.jtha.2026.02.011_bib16","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/978-0-387-77374-2_8","article-title":"hnRNP proteins and splicing control","volume":"623","author":"Martinez-Contreras","year":"2007","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib17","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib18","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: examples, detection, and confirmation","volume":"59","author":"Anna","year":"2018","journal-title":"J Appl Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib19","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006082","article-title":"Molecular basis and therapeutic strategies to rescue factor IX variants that affect splicing and protein function","volume":"12","author":"Tajnik","year":"2016","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib20","doi-asserted-by":"crossref","first-page":"344","DOI":"10.3324\/haematol.2017.178327","article-title":"Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity","volume":"103","author":"Donadon","year":"2018","journal-title":"Haematologica"},{"key":"10.1016\/j.jtha.2026.02.011_bib21","doi-asserted-by":"crossref","first-page":"3124","DOI":"10.1016\/j.jtha.2023.06.021","article-title":"Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions","volume":"21","author":"Cao","year":"2023","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib22","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1055\/a-2408-9529","article-title":"Unraveling the molecular pathogenesis of protein C deficiency-associated VTE: insights from protein C mutations C238G and R189W in Thai patients","volume":"125","author":"Tanratana","year":"2025","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib23","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1160\/TH17-01-0043","article-title":"Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function","volume":"117","author":"Chen","year":"2017","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib24","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/nrg2164","article-title":"Splicing in disease: disruption of the splicing code and the decoding machinery","volume":"8","author":"Wang","year":"2007","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib25","doi-asserted-by":"crossref","first-page":"6461","DOI":"10.1182\/blood-2009-03-207613","article-title":"Rescue of coagulation factor VII function by the U1+5A snRNA","volume":"113","author":"Pinotti","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2026.02.011_bib26","doi-asserted-by":"crossref","first-page":"4250","DOI":"10.1093\/nar\/gkm402","article-title":"Aberrant 5\u2032 splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization","volume":"35","author":"Buratti","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib27","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1007\/s00018-004-4190-0","article-title":"The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein","volume":"61","author":"Sch\u00fcmperli","year":"2004","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.jtha.2026.02.011_bib28","doi-asserted-by":"crossref","DOI":"10.1002\/jgm.3321","article-title":"U7 snRNA: a tool for gene therapy","volume":"23","author":"Gadgil","year":"2021","journal-title":"J Gene Med"},{"key":"10.1016\/j.jtha.2026.02.011_bib29","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1016\/j.ajhg.2021.06.012","article-title":"Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function","volume":"108","author":"Lombardi","year":"2021","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib30","doi-asserted-by":"crossref","first-page":"829","DOI":"10.3324\/haematol.2019.217539","article-title":"Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency","volume":"105","author":"Ferraresi","year":"2020","journal-title":"Haematologica"},{"key":"10.1016\/j.jtha.2026.02.011_bib31","doi-asserted-by":"crossref","first-page":"2811","DOI":"10.1093\/bioinformatics\/btab051","article-title":"Mutalyzer 2: next generation HGVS nomenclature checker","volume":"37","author":"Lefter","year":"2021","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jtha.2026.02.011_bib32","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","article-title":"RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib33","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib34","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib35","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/nar\/29.5.1185","article-title":"GeneSplicer: a new computational method for splice site prediction","volume":"29","author":"Pertea","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib36","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.jtha.2026.02.011_bib37","doi-asserted-by":"crossref","first-page":"6822","DOI":"10.1002\/j.1460-2075.1996.tb01073.x","article-title":"The 2.8 \u00c5 crystal structure of Gla-domainless activated protein C","volume":"15","author":"Mather","year":"1996","journal-title":"EMBO J"},{"key":"10.1016\/j.jtha.2026.02.011_bib38","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jtha.2026.02.011_bib39","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.thromres.2015.03.010","article-title":"Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies","volume":"135","author":"Di Minno","year":"2015","journal-title":"Thromb Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib40","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.1182\/blood.V85.10.2756.bloodjournal85102756","article-title":"Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study)","volume":"85","author":"Koster","year":"1995","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2026.02.011_bib41","doi-asserted-by":"crossref","DOI":"10.1093\/bib\/bbad284","article-title":"Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis","volume":"24","author":"Wang","year":"2023","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.jtha.2026.02.011_bib42","series-title":"ECAT assay procedures: a manual of laboratory techniques","first-page":"85","article-title":"Protein C activity and antigen","author":"Bertina","year":"1992"},{"key":"10.1016\/j.jtha.2026.02.011_bib43","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/j.ajhg.2023.06.002","article-title":"Using the ACMG\/AMP framework to capture evidence related to predicted and observed impact on splicing: recommendations from the ClinGen SVI Splicing Subgroup","volume":"110","author":"Walker","year":"2023","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib44","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.3390\/genes12091308","article-title":"Performance evaluation of SpliceAI for the prediction of splicing of NF1 variants","volume":"12","author":"Ha","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jtha.2026.02.011_bib45","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/humu.20400","article-title":"Single base-pair substitutions in exon\u2013intron junctions of human genes: nature, distribution, and consequences for mRNA splicing","volume":"28","author":"Krawczak","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jtha.2026.02.011_bib46","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1080\/15476286.2022.2100971","article-title":"Principles and correction of 5\u2032-splice site selection","volume":"19","author":"Malard","year":"2022","journal-title":"RNA Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib47","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s13059-023-02966-1","article-title":"In silico methods for predicting functional synonymous variants","volume":"24","author":"Lin","year":"2023","journal-title":"Genome Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib48","doi-asserted-by":"crossref","first-page":"3557","DOI":"10.1016\/j.jtha.2023.08.023","article-title":"Design and characterization of novel activated protein C variants for the proteolysis of cytotoxic extracellular histone H3","volume":"21","author":"Huckriede","year":"2023","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib49","doi-asserted-by":"crossref","first-page":"28987","DOI":"10.1074\/jbc.M201892200","article-title":"Thermodynamic linkage between the S1 site, the Na+ site, and the Ca2+ site in the protease domain of human activated protein C","volume":"277","author":"Schmidt","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2026.02.011_bib50","article-title":"Whole PROC gene sequencing to explain genetically unresolved protein C deficiencies","author":"Mauge","year":"2025","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib51","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/j.jtha.2023.12.031","article-title":"Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation","volume":"22","author":"Zhang","year":"2024","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2026.02.011_bib52","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jtha.2026.02.011_bib53","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1101\/gr.606402","article-title":"Distribution and characterization of regulatory elements in the human genome","volume":"12","author":"Majewski","year":"2002","journal-title":"Genome Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib54","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1093\/nar\/gkab098","article-title":"Intron exon boundary junctions in human genome have in-built unique structural and energetic signals","volume":"49","author":"Mishra","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jtha.2026.02.011_bib55","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1080\/15476286.2022.2089478","article-title":"Splice site proximity influences alternative exon definition","volume":"19","author":"Carranza","year":"2022","journal-title":"RNA Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib56","first-page":"1346","article-title":"Absence of significant off-target splicing variation with a U7snRNA vector targeting DMD exon 2 duplications","volume":"32","author":"Wein","year":"2021","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.jtha.2026.02.011_bib57","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.24377","article-title":"Effects of 14 F9 synonymous codon variants on hemophilia B expression: alteration of splicing along with protein expression","volume":"43","author":"Zhang","year":"2022","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jtha.2026.02.011_bib58","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1016\/j.ajhg.2022.07.004","article-title":"Rescue of a familial dysautonomia mouse model by AAV9-exon-specific U1 snRNA","volume":"109","author":"Romano","year":"2022","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jtha.2026.02.011_bib59","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1038\/mtna.2012.24","article-title":"The cellular processing capacity limits the amounts of chimeric U7 snRNA available for antisense delivery","volume":"1","author":"Eckenfelder","year":"2012","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.jtha.2026.02.011_bib60","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1038\/mt.2013.121","article-title":"AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy","volume":"21","author":"Le Hir","year":"2013","journal-title":"Mol Ther"},{"key":"10.1016\/j.jtha.2026.02.011_bib61","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/978-3-030-19966-1_7","article-title":"RNA therapeutics: how far have we gone?","volume":"1157","author":"Coutinho","year":"2019","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jtha.2026.02.011_bib62","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/humu.23680","article-title":"Disease-causing variants of the conserved +2T of 5\u2032 splice sites can be rescued by engineered U1snRNAs","volume":"40","author":"Scalet","year":"2019","journal-title":"Hum Mutat"}],"container-title":["Journal of Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783626001285?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783626001285?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T12:45:03Z","timestamp":1781527503000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1538783626001285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":62,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["S1538783626001285"],"URL":"https:\/\/doi.org\/10.1016\/j.jtha.2026.02.011","relation":{},"ISSN":["1538-7836"],"issn-type":[{"value":"1538-7836","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Functional impact of PROC variants on splicing and protein C activity: evidence for clinical reclassification and RNA therapeutic approaches","name":"articletitle","label":"Article Title"},{"value":"Journal of Thrombosis and Haemostasis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jtha.2026.02.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}