Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings

PURPOSE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained. METHODS: 30,716 individuals underwent exome sequencing....

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Detalles Bibliográficos
Autores principales: Haggerty, Christopher M., James, Cynthia A., Calkins, Hugh, Tichnell, Crystal, Leader, Joseph B., Hartzel, Dustin N., Nevius, Christopher D., Pendergrass, Sarah A., Person, Thomas N., Schwartz, Marci, Ritchie, Marylyn D., Carey, David J., Ledbetter, David H., Williams, Marc S., Dewey, Frederick E., Lopez, Alexander, Penn, John, Overton, John D., Reid, Jeffrey G., Lebo, Matthew, Mason-Suares, Heather, Austin-Tse, Christina, Rehm, Heidi L., Delisle, Brian P., Makowski, Daniel J., Mehra, Vishal C., Murray, Michael F., Fornwalt, Brandon K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671380/
https://www.ncbi.nlm.nih.gov/pubmed/28471438
http://dx.doi.org/10.1038/gim.2017.40

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