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

Eric D. Carruth,Wilson Young,Dominik Beer,Cynthia A. James,Hugh Calkins,Linyuan Jing,Sushravya Raghunath,Dustin N. Hartzel,Joseph B. Leader,H. Lester Kirchner,Diane T. Smelser,David J. Carey,Melissa A. Kelly,Amy C. Sturm,Amro Alsaid,Brandon K. Fornwalt,Christopher M. Haggerty

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

2019

Eric D. Carruth
Wilson Young
Dominik Beer
Cynthia A. James
Hugh Calkins
Linyuan Jing
Sushravya Raghunath
Dustin N. Hartzel
Joseph B. Leader
H. Lester Kirchner
Diane T. Smelser
David J. Carey
Melissa A. Kelly
Amy C. Sturm
Amro Alsaid
Brandon K. Fornwalt
Christopher M. Haggerty

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants, primarily loss-of-fu...

Keywords:

Medical record
Likely pathogenic
Desmosome
Genetics
Cardiomyopathy
Loss function
Phenotype
Gene
Biology
Exome sequencing
Genomics
electronic health record
right ventricular cardiomyopathy

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