Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.Q246R
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ACTG1

NM_001614.5:p.Q246R

Associated Papers

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M et al.

Human Molecular Genetics, 2009

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."