Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.S199R
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ACTB

NM_001101.5:p.S199R

Associated Papers

Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation.

Hou X et al.

Stem Cell Research, 2024

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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."