Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.D258H
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SMAD3

NM_005902.4:p.D258H

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD3

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

Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.

Kaadan MI et al.

Circulation. Genomic and Precision Medicine, 2018

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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."