Varaico: Literature-Extracted Genetic Variants

Gene:TGFB2
Variant:p.S389insFs
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TGFB2

NM_001135599.4:p.S389insFs

Associated Papers

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

Schepers D et al.

Human Mutation, 2018

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M et al.

Bmc Medical Genetics, 2014

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

Leutermann R et al.

European Journal of Human Genetics : Ejhg, 2014

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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."