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...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Circ Genom Precis Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim: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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