Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R147S
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ACTG1

NM_001614.5:p.R147S

Associated Papers

Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.

Hecquet T et al.

Iscience, 2025

ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus.

Dai S et al.

Biomedicines, 2021

Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.

Cai ED et al.

The Journal of Investigative Dermatology, 2017

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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."