Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.M47T
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ACTB

NM_001101.5:p.M47T

Associated Papers

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Sandestig A et al.

Molecular Syndromology, 2019

Baraitser-Winter cerebrofrontofacial syndrome.

Yates TM et al.

Clinical Genetics, 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."