Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.A620P
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PPP1R13L

NM_006663.4:p.A620P

Associated Papers

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy.

Kalayinia S et al.

Bmc Cardiovascular Disorders, 2022

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy.

Poloni G et al.

Heart Rhythm, 2019

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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."