Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.Y747*
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PPP1R13L

NM_006663.4:p.Y747*

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

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

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Falik-Zaccai TC et al.

Embo Molecular Medicine, 2017

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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."