Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.T200I
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TGFBR2

NM_003242.6:p.T200I

Associated Papers

Molecular insights into TGF-B signalling pathway disruption by non-synonymous SNPs variants in COPD: an in silico and molecular dynamics simulation study.

Mahajan N et al.

Journal of Biomolecular Structure & Dynamics, 2025

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Cardoso S et al.

Journal of Receptor and Signal Transduction Research, 2012

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Mizuguchi T et al.

Journal of Human Genetics, 2007

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL et al.

The New England Journal of Medicine, 2006

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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."