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Article

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

International journal of molecular sciences - 6 Jun 2024

Bueno Marinas Maria, Cason Marco, Bariani Riccardo, Celeghin Rudy, De Gaspari Monica, Pinci Serena, Cipriani Alberto, Rigato Ilaria, Zorzi Alessandro, Rizzo Stefania, Thiene Gaetano, Perazzolo Marra Martina, Corrado Domenico, Basso Cristina, Bauce Barbara, Pilichou Kalliopi

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM...

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Identifiers

PMID: 38892455
DOI: 10.3390/ijms25116267
PMCID: PMC11173278

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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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