Associated Papers
An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.
Coudert A et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J et al.
The Journal of Pediatrics, 2024
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
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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