Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.T723P
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PPP1R13L

NM_006663.4:p.T723P

Associated Papers

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

Coudert A et al.

American Journal of Medical Genetics. Part A, 2025

Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.

Tulbah S et al.

American Journal of Medical Genetics. Part A, 2024

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

Kalayinia S et al.

Bmc Cardiovascular Disorders, 2022

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

Robinson HK et al.

Clinical Genetics, 2020

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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."