Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.Q91L
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CSRP3

NM_003476.5:p.Q91L

Associated Papers

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

Støle TP et al.

Cells, 2024

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S2

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

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

Is there a common genetic basis for all familial cardiomyopathies?

Perrot A et al.

European Journal of Heart Failure, 2007

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

Theis JL et al.

Biochemical and Biophysical Research Communications, 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."