Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L452*
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PKP2

NM_001005242.3:p.L452*

Associated Papers

Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy.

Camors EM et al.

Circulation, 2022

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Rasmussen TB et al.

Circulation. Cardiovascular Genetics, 2014

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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."