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Article

Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.

Circulation. Genomic and precision medicine - 1 Nov 2019

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

Abstract excerpt

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 phenotype in a general clinical population are not fully characterized. METHODS: From whole-exome sequencing of...

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Identifiers

PMID: 31638835
DOI: 10.1161/CIRCGEN.119.002579
PMCID: PMC6876858

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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