Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.E85fs
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PKP2

NM_001005242.3:p.E85fs

Associated Papers

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.

Hylind RJ et al.

Circulation. Genomic and Precision Medicine, 2022

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

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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."