Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.L472L
Back to variants list

TGFBI

NM_000358.3:p.L472L

Associated Papers

Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene.

Costagliola C et al.

La Clinica Terapeutica, 2014

Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.

Kamal KM et al.

Cornea, 2009

p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I.

Yu P et al.

Genetic Testing, 2008

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

Yu P et al.

Journal of Genetics, 2006

[Molecular genetic study on patients with lattice corneal dystrophy in China].

Dong WL et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.

Park KS et al.

Human Mutation, 2005

Keratoconus--no association with the transforming growth factor beta-induced gene in a cohort of American patients.

Udar N et al.

Cornea, 2004

[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].

Yu J et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

El-Ashry MF et al.

Ophthalmic Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."