Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.E55G
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CSRP3

NM_003476.5:p.E55G

Associated Papers

Exploring Syndecan-4 and MLP and Their Interaction in Primary Cardiomyocytes and H9c2 Cells.

Støle TP et al.

Cells, 2024

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

Noureddine M et al.

Frontiers in Physiology, 2023

LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.

Chauhan PK et al.

Scientific Reports, 2022

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

Huang H et al.

The Journal of Gene Medicine, 2022

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

Ehsan M et al.

Journal of Molecular and Cellular Cardiology, 2018

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

Geier C et al.

Human Molecular Genetics, 2008

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

Bos JM et al.

Molecular Genetics and Metabolism, 2006

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Geier C et al.

Circulation, 2003

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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."