Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.Y378C
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TGFBR1

NM_004612.4:p.Y378C

Associated Papers

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Wayhelova M et al.

Orphanet Journal of Rare Diseases, 2024

The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors.

Yu EJ et al.

Plos One, 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."