Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.I231T
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DSC2

NM_024422.6:p.I231T

Associated Papers

Arrhythmogenic cardiomyopathy-related cadherin variants affect desmosomal binding kinetics.

Göz M et al.

Journal of Molecular and Cellular Cardiology, 2024

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

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Barahona-Dussault C et al.

Clinical Genetics, 2010

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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."