Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G48D
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PKP2

NM_001005242.3:p.G48D

Associated Papers

Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis.

Lie ØH et al.

Journal of the American Heart Association, 2021

33821670 (PubMed )
Supplement: JAH3-10-e018680-s001.pdf

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM et al.

American Journal of Human Genetics, 2006

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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."