Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.F538S
Back to variants list

TGFBR2

NM_003242.6:p.F538S

Associated Papers

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Chida R et al.

Journal of Human Genetics, 2026

The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.

Yapijakis C et al.

Advances in Experimental Medicine and Biology, 2023

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.

Luo X et al.

Frontiers in Genetics, 2020

Genetic testing of 10 patients with features of Loeys-Dietz syndrome.

Luo M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."