Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G269R
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PKP2

NM_001005242.3:p.G269R

Associated Papers

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

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 › gnomAD

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA).

Zhang M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.

Ashrafian H et al.

Plos 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."