Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.T203M
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ACTB

NM_001101.5:p.T203M

Associated Papers

Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.

Hecquet T et al.

Iscience, 2025

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

Ghiselli S et al.

Journal of Clinical Medicine, 2024

Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice.

Xu M et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

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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."