Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.K36*
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TGFB3

NM_003239.5:p.K36*

Associated Papers

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Almpani K et al.

Journal of Medical Genetics, 2022

34916229 (PubMed )
Supplement: jmedgenet-2021-107695supp001.pdf

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

Schepers D et al.

Human Mutation, 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."