Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.V159L
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DSC2

NM_024422.6:p.V159L

Associated Papers

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Haggerty CM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.

Boente Mdel C et al.

The British Journal of Dermatology, 2016

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

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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."