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Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation

BACKGROUND: With expanding use of clinical whole exome sequencing (WES), genetic variants of uncertain significance are increasingly identified. As pathologic mutations in genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) carry a risk of sudden death, determining the diagn...

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Detalles Bibliográficos
Autores principales: Headrick, Andrew T., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Penny, Daniel J., Kim, Jeffrey J., Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565596/
https://www.ncbi.nlm.nih.gov/pubmed/30985088
http://dx.doi.org/10.1002/mgg3.593