Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.R300G
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TGFB3

NM_003239.5:p.R300G

Associated Papers

Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report.

Hussein D et al.

Neurology. Genetics, 2021

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

Mégarbané A et al.

American Journal of Medical Genetics. Part A, 2020

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

Schepers D et al.

Human Mutation, 2018

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Kuechler A et al.

Molecular and Cellular Probes, 2015

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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."