Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.D238del1
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DSC2

NM_024422.6:p.D238del1

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 Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

Mellor G et al.

Circulation. Cardiovascular Genetics, 2017

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.

Lorenzon A et al.

The American Journal of Cardiology, 2015

Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.

Al-Sabeq B et al.

The Canadian Journal of Cardiology, 2014

Arrhythmogenic right ventricular dysplasia: detection by radionuclide ventriculography.

Purves PD et al.

The Canadian Journal of Cardiology, 1985

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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."