Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V321fs
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PKP2

NM_001005242.3:p.V321fs

Associated Papers

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Kim Y et al.

Circulation. Genomic and Precision Medicine, 2023

37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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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."