Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.G182D
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ACTB

NM_001101.5:p.G182D

Associated Papers

Myopathy-causing actin mutations promote defects in serum-response factor signalling.

Visegrády B et al.

The Biochemical Journal, 2010

Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.

Vandamme D et al.

Bmc Research Notes, 2009

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

Costa CF et al.

Journal of Cell Science, 2004

Production of human skeletal alpha-actin proteins by the baculovirus expression system.

Anthony Akkari P et al.

Biochemical and Biophysical Research Communications, 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."