Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.S264F
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SMAD3

NM_005902.4:p.S264F

Associated Papers

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.

Bhattacharyya T

Jbmr Plus, 2025

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

Kang H et al.

The Journal of Experimental Medicine, 2020

Hide and seek: Somatic SMAD3 mutations in melorheostosis.

Velchev JD et al.

The Journal of Experimental Medicine, 2020

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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."