Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.R38C
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ACTG2

NM_001615.4:p.R38C

Associated Papers

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Assia Batzir N et al.

Human Mutation, 2020

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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."