Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN4
Variant:p.N128K
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CAVIN4

NM_001018116.2:p.N128K

Associated Papers

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

Rodriguez G et al.

Circulation. Cardiovascular Genetics, 2011

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