Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D154E
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DSG2

NM_001943.5:p.D154E

Associated Papers

Arrhythmogenic cardiomyopathy-related cadherin variants affect desmosomal binding kinetics.

Göz M et al.

Journal of Molecular and Cellular Cardiology, 2024

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.

Debus JD et al.

Journal of Molecular and Cellular Cardiology, 2019

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.

Dieding M et al.

Scientific Reports, 2017

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.

Gaertner A et al.

Plos One, 2012

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."