Varaico: Literature-Extracted Genetic Variants

Gene:TGFB2
Variant:p.Y99*
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TGFB2

NM_003238.6:p.Y99*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME et al.

Nature Genetics, 2012

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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."