Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L419S
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PKP2

NM_001005242.3:p.L419S

Associated Papers

Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.

Badowski C et al.

Scientific Reports, 2024

[The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia].

Liu X et al.

Zhonghua Nei Ke Za Zhi, 2015

Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Qiu X et al.

The American Journal of Cardiology, 2009

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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."