Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.C591_E592delFs
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DSG2

NM_001943.5:p.C591_E592delFs

Associated Papers

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations

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

Lacaze P et al.

Npj Genomic Medicine, 2021

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

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

Brun F et al.

Journal of Medical Genetics, 2014

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."