Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S249T
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PKP2

NM_001005242.3:p.S249T

Associated Papers

The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population.

Kofeynikova O et al.

Frontiers in Cardiovascular Medicine, 2023

Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure.

Chen K et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2019

Arrhythmogenic cardiomyopathy: Identification of desmosomal gene variations and desmosomal protein expression in variation carriers.

Wang L et al.

Experimental and Therapeutic Medicine, 2018

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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."