Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.L954del1
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VCL

NM_014000.3:p.L954del1

Associated Papers

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.

Ittisoponpisan S et al.

Human Mutation, 2017

Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

Cheng J et al.

Scientific Reports, 2017

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.

Wells QS et al.

Cardiogenetics, 2011

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.

Vasile VC et al.

Molecular Genetics and Metabolism, 2006

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

Kärkkäinen S et al.

Journal of Molecular Medicine (berlin, Germany), 2003

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

Olson TM et al.

Circulation, 2002

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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."