Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.K70T
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SLC3A2

NM_001013251.3:p.K70T

Associated Papers

A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.

Bai F et al.

Journal of Muscle Research and Cell Motility, 2013

Alpha-tropomyosin mutations in inherited cardiomyopathies.

Redwood C et al.

Journal of Muscle Research and Cell Motility, 2013

Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin.

Hilario E et al.

European Journal of Biochemistry, 2004

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade.

Michele DE et al.

Circulation Research, 2002

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation.

Hernandez OM et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2001

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes.

Michele DE et al.

Nature Medicine, 1999

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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."