Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.R122Q
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CSRP3

NM_003476.5:p.R122Q

Associated Papers

Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.

Chung H et al.

Korean Circulation Journal, 2025

40736383 (PubMed )
Supplement: kcj-55-1001-s006.xls › kcj-55-1001-s006

Unveiling Clinical and Genetic Distinctions in Pure-Apical Versus Distal-Dominant Apical Hypertrophic Cardiomyopathy.

Sugiura K et al.

Journal of the American Heart Association, 2025

40055852 (PubMed )
Supplement: JAH3-14-e038208-s001.pdf

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

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 › S5

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Genetic study of pediatric hypertrophic cardiomyopathy in Egypt.

Darwish RK et al.

Cardiology in the Young, 2020

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

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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."