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Article

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

International journal of cardiology - 15 Dec 2017

Castelletti Silvia, Vischer Annina S, Syrris Petros, Crotti Lia, Spazzolini Carla, Ghidoni Alice, Parati Gianfranco, Jenkins Sharon, Kotta Maria-Christina, McKenna William J, Schwartz Peter J, Pantazis Antonis

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28527814
DOI: 10.1016/j.ijcard.2017.05.018

Genes

DSP

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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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