Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.D350Y
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DSC2

NM_024422.6:p.D350Y

Associated Papers

Arrhythmogenic cardiomyopathy-related cadherin variants affect desmosomal binding kinetics.

Göz M et al.

Journal of Molecular and Cellular Cardiology, 2024

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

30715372 (PubMed )
Supplement: ddz032_supp.zip › HMG-2018-D-01045_Hedberg-Oldfors_Supplemental_data.docx

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

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 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

Bhuiyan ZA et al.

Circulation. Cardiovascular Genetics, 2009

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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."