Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.G268R
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ACTG1

NM_001614.5:p.G268R

Associated Papers

A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin.

Schultz LE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37956287 (PubMed )
Supplement: pnas.2315820120.sapp.pdf

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

Visegrády B et al.

The Biochemical Journal, 2010

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M et al.

Neuromuscular Disorders : Nmd, 2004

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

Costa CF et al.

Journal of Cell Science, 2004

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."