Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR3
Variant:p.T19A
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TGFBR3

NM_003243.5:p.T19A

Associated Papers

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Sticchi E et al.

Diagnostics (basel, Switzerland), 2025

Biomimetic Digital Twins and Multiomics: Applications to Rheumatoid Arthritis and the Potential Reclassification of Variants of Unknown Clinical Significance.

Kearns WG et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.

Singh KK et al.

Journal of Negative Results in Biomedicine, 2012

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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."