Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.S264Y
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SMAD3

NM_005902.4:p.S264Y

Associated Papers

Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.

Zatzman M et al.

Biorxiv : the Preprint Server for Biology, 2025

40654861 (PubMed )
Supplement: media-1.xlsx › Table_S2_-_IMPACT_Mutations

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

Bhattacharyya T

Jbmr Plus, 2025

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis.

El-Gazzar A et al.

Bone Reports, 2022

Aberrations in SMAD family of genes among HNSCC patients.

Thariny E et al.

Bioinformation, 2021

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."