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Article

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

Journal of the American College of Cardiology - 7 Jun 2011

Kapplinger Jamie D, Landstrom Andrew P, Salisbury Benjamin A, Callis Thomas E, Pollevick Guido D, Tester David J, Cox Moniek G P J, Bhuiyan Zahir, Bikker Hennie, Wiesfeld Ans C P, Hauer Richard N W, van Tintelen J Peter, Jongbloed Jan D H, Calkins Hugh, Judge Daniel P, Wilde Arthur A M, Ackerman Michael J

Abstract excerpt

OBJECTIVES: The aims of this study were to determine the spectrum and prevalence of "background genetic noise" in the arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) genetic test and to determine genetic associations that can guide the interpretation of a positive test result. BACKGROUND: ARVC is a potentially lethal genetic cardiovascular disorder characterized by myocyte loss and fibrofatty...

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Identifiers

PMID: 21636032
DOI: 10.1016/j.jacc.2010.12.036
PMCID: PMC6311127

Genes

DSG2
DSP
PKP2
DSC2
TMEM43

Provenance

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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