Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H544insFs
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PKP2

NM_001005242.3:p.H544insFs

Associated Papers

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

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Gerull B et al.

Nature Genetics, 2004

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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."