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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKP2

Variant:p.P244_T248delFs

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PKP2

NM_001005242.3:p.P244_T248delFs

hg38:chr12:32878135 TGGTCCCTGGCCTGG>T

Associated Papers

Compound PKP2/DSC2 Mutations Causing Biventricular Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Obese Man.

Duan X et al.

Jacc. Case Reports, 2025

41350012 (PubMed )

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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."