Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.C591*
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DSG2

NM_001943.5:p.C591*

Associated Papers

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Lacaze P et al.

Npj Genomic Medicine, 2021

Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy.

Brun F et al.

Journal of Medical Genetics, 2014

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

Sen-Chowdhry S et al.

Journal of the American College of Cardiology, 2008

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

Syrris P et al.

European Heart Journal, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."