Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.E239K
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TGFBR1

NM_004612.4:p.E239K

Associated Papers

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

Kang H et al.

The Journal of Experimental Medicine, 2020

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D et al.

Human Mutation, 2018

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Wischmeijer A et al.

American Journal of Medical Genetics. Part A, 2013

Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.

Zhang P et al.

Frontiers in Bioscience (landmark Edition), 2013

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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."