Varaico: Literature-Extracted Genetic Variants

Gene:TGFB2
Variant:p.L330L
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TGFB2

NM_003238.6:p.L330L

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

Obstetric Management of Loeys-Dietz Syndrome.

Russo ML et al.

Obstetrics and Gynecology, 2018

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

Schepers D et al.

Human Mutation, 2018

29392890 (PubMed )
Supplement: HUMU-39-621-s001.pdf

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L et al.

Orphanet Journal of Rare Diseases, 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."