Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.K118M
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ACTB

NM_001101.5:p.K118M

Associated Papers

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S et al.

Journal of Clinical Medicine, 2024

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

Rubenstein PA et al.

Cytoskeleton (hoboken, N.j.), 2014

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N et al.

European Journal of Human Genetics : Ejhg, 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."