Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V310_A317insFs
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PKP2

NM_001005242.3:p.V310_A317insFs

Associated Papers

Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.

Chmielewski P et al.

Kardiologia Polska, 2024

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.

Biernacka EK et al.

Journal of Applied Genetics, 2021

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
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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."