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Article

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Heart rhythm - 1 Nov 2014

Groeneweg Judith A, Ummels Amber, Mulder Marcel, Bikker Hennie, van der Smagt Jasper J, van Mil Anneke M, Homfray Tessa, Post Jan G, Elvan Arif, van der Heijden Jeroen F, Houweling Arjan C, Jongbloed Jan D H, Wilde Arthur A M, van Tintelen J Peter, Hauer Richard N, Dooijes Dennis

Abstract excerpt

BACKGROUND: Interpretation of genetic screening results in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) often is difficult. Pathogenicity of variants with uncertain clinical significance may be predicted by software algorithms. However, functional assessment can unambiguously demonstrate the effect of such variants. OBJECTIVE: The purpose of this study was to perform functional analysis of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25087486
DOI: 10.1016/j.hrthm.2014.07.041

Genes

DSG2
JUP
PKP2
DSC2

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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