Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.R330insFs
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PPP1R13L

NM_006663.4:p.R330insFs

Associated Papers

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

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Bertoli-Avella AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Homozygous_variants
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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."