Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.G72R
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CSRP3

NM_003476.5:p.G72R

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

Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.

Lipari M et al.

Polish Archives of Internal Medicine, 2020

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

Janin A et al.

Gene, 2018

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

Ehsan M et al.

Journal of Molecular and Cellular Cardiology, 2018

Muscle Lim Protein and myosin binding protein C form a complex regulating muscle differentiation.

Arvanitis DA et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2017

Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Liu N et al.

Scientific Reports, 2017

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Norton N et al.

Circulation. Cardiovascular Genetics, 2012

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE et al.

Clinical and Translational Science, 2008

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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."