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Prevalence and Electronic Health Record-based Phenotype of Loss-of-function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-associated Genes

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants, primarily loss-of-function (LOF) variants, are recommended for clinical reporting; however, their prevalence and associated...

詳細記述

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書誌詳細
出版年:Circ Genom Precis Med
主要な著者: Carruth, Eric D., Young, Wilson, Beer, Dominik, James, Cynthia A., Calkins, Hugh, Jing, Linyuan, Raghunath, Sushravya, Hartzel, Dustin N., Leader, Joseph B., Kirchner, H. Lester, Smelser, Diane T., Carey, David J., Kelly, Melissa A., Sturm, Amy C., Alsaid, Amro, Fornwalt, Brandon K., Haggerty, Christopher M.
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6876858/
https://ncbi.nlm.nih.gov/pubmed/31638835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.119.002579
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