Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.T139T
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TGFBI

NM_000358.3:p.T139T

Associated Papers

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

Chao-Shern C et al.

Eye (london, England), 2018

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

Genes in dizygote twins with Bowman layer corneal dystrophy.

Hou YC et al.

Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2015

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG et al.

Investigative Ophthalmology & Visual Science, 2014

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

Yam GH et al.

Investigative Ophthalmology & Visual Science, 2012

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Nowińska AK et al.

Molecular Vision, 2011

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

Corneal dystrophies.

Klintworth GK

Orphanet Journal of Rare Diseases, 2009

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings.

Gruenauer-Kloevekorn C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2009

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Liu Z et al.

Molecular Vision, 2008

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P et al.

Molecular Vision, 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

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.

Yoshida S et al.

American Journal of Ophthalmology, 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

The molecular genetics of the corneal dystrophies--current status.

Klintworth GK

Frontiers in Bioscience : a Journal and Virtual Library, 2003

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