Associated Papers
An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.
Coudert A et al.
American Journal of Medical Genetics. Part A, 2025
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10
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
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Robinson HK et al.
Clinical Genetics, 2020
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