Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R254W
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ACTB

NM_001101.5:p.R254W

Associated Papers

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A et al.

European Journal of Human Genetics : Ejhg, 2015

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

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB et al.

Nature Genetics, 2012

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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."