Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.N220insFs
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VCL

NM_014000.3:p.N220insFs

Associated Papers

Vinculin haploinsufficiency impairs integrin-mediated costamere remodeling on stiffer microenvironments.

Nelson AC et al.

Journal of Molecular and Cellular Cardiology, 2025

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Yoneda ZT et al.

Jama Cardiology, 2021

34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Hawley MH et al.

Human Mutation, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S6

Combinatorial interactions of genetic variants in human cardiomyopathy.

Deacon DC et al.

Nature Biomedical Engineering, 2019

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
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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."