Výsledky vyhledávání - "Susan Stowers"

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants inCOL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen

Autor: Susan Stowers, Thao Tran, Samuel S. Bailey, Jennifer Schleit, Diana Chen, Ulrike Schwarze, Peter H. Byers

Publikováno v: Human Mutation. 36:728-739

Approximately 10%-20% of germline pathogenic variants alter mRNA splicing, with phenotypes often dependent on the stability of the mRNA produced by the mutant allele. To better understand the relationships between genotype, mRNA splicing, and phenoty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffdd2316435bb3b3b2fa896aeb71e3c
https://doi.org/10.1002/humu.22812

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