Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y86*
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PKP2

NM_001005242.3:p.Y86*

Associated Papers

Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy.

Kyriakopoulou E et al.

Nature Cardiovascular Research, 2023

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

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

31386562 (PubMed )
Supplement: circgenetics_circcvg-2019-002467_supp1.pdf

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

Bhuiyan ZA et al.

Circulation. Cardiovascular Genetics, 2009

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

van Tintelen JP et al.

Circulation, 2006

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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."