Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.E137K
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PKP2

NM_001005242.3:p.E137K

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 › MyCode

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Barahona-Dussault C et al.

Clinical Genetics, 2010

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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."