Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.Q194*
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PPP1R13L

NM_006663.4:p.Q194*

Associated Papers

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S1

Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family.

Mahdavi M et al.

Cardiology in the Young, 2022

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

Kalayinia S et al.

Bmc Cardiovascular Disorders, 2022

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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."