Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.C89Y
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SMAD3

NM_005902.4:p.C89Y

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

A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.

Courtois A et al.

European Journal of Medical Genetics, 2017

A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Zhang W et al.

Biomed Research International, 2015

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.

Bevan S et al.

Gut, 1999

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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."