Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V406fs
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PKP2

NM_001005242.3:p.V406fs

Associated Papers

The genetic architecture of Plakophilin 2 cardiomyopathy.

Dries AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34120153 (PubMed )
Supplement: NIHMS1717834-supplement-Supplementary_File_1-_Variant_List.xlsx › ACM_ARVC_Genetic_Testing_Cohort

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Verhagen JMA et al.

Circulation. Genomic and Precision Medicine, 2018

Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.

Groeneweg JA et al.

The American Journal of Cardiology, 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."