Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.E169K
Back to variants list

TGFB3

NM_003239.5:p.E169K

Associated Papers

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.

Lim MS et al.

Journal of Medical Genetics, 2025

Aberrant activation of TGF-β1 induces high bone turnover via Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease.

Chen Q et al.

Frontiers in Endocrinology, 2022

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Kim YM et al.

Medicine, 2018

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."