Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.K42fs
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CSRP3

NM_003476.5:p.K42fs

Associated Papers

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.

Huang H et al.

The Journal of Gene Medicine, 2022

First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.

Janin A et al.

Gene, 2018

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.

Theis JL et al.

Biochemical and Biophysical Research Communications, 2006

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

Bos JM et al.

Molecular Genetics and Metabolism, 2006

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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."