Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.N115T
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ACTG1

NM_001614.5:p.N115T

Associated Papers

Insights into the effects of disease-causing mutations in human actins.

Rubenstein PA et al.

Cytoskeleton (hoboken, N.j.), 2014

Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function.

Bergeron SE et al.

The Journal of Biological Chemistry, 2011

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC et al.

Neuromuscular Disorders : Nmd, 2003

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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."