Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.G252Splc
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TGFB3

NM_003239.5:p.G252Splc

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Schepers D et al.

Human Mutation, 2018

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM et al.

Journal of the American College of Cardiology, 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."