Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.P164S
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ACTB

NM_001101.5:p.P164S

Associated Papers

Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.

Nie K et al.

Frontiers in Genetics, 2022

Deriving genomic diagnoses without revealing patient genomes.

Jagadeesh KA et al.

Science (new York, N.y.), 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."