Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.T139T
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TGFBI

NM_000358.3:p.T139T

Associated Papers

Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Courtney DG et al.

Investigative Ophthalmology & Visual Science, 2015

In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.

Yam GH et al.

Investigative Ophthalmology & Visual Science, 2012

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.

Gu Z et al.

Molecular Vision, 2011

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Romero P et al.

Molecular Vision, 2010

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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."