Varaico: Literature-Extracted Genetic Variants

Gene:PKP4
Variant:p.R294W
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PKP4

NM_003628.6:p.R294W

Associated Papers

Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.

Lin Y et al.

Cardiology, 0

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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."