Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.Y448H
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TGFBR2

NM_003242.6:p.Y448H

Associated Papers

Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.

Pedroza AJ et al.

Jtcvs Open, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

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."