Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A324_G327delFs
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PKP2

NM_001005242.3:p.A324_G327delFs

Associated Papers

Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.

Fanidis D et al.

Genomics, 2026

Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43.

Kam CY et al.

The Journal of Cell Biology, 2018

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

Antoniades L et al.

European Heart Journal, 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."