Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E117K
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ACTG1

NM_001614.5:p.E117K

Associated Papers

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

Choi GJ et al.

Annals of Clinical and Laboratory Science, 2020

Child with cerebral malformations and epilepsy.

Sun Y et al.

The International Journal of Neuroscience, 2018

Insights into the effects of disease-causing mutations in human actins.

Rubenstein PA et al.

Cytoskeleton (hoboken, N.j.), 2014

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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."