Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.F540F
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TGFBI

NM_000358.3:p.F540F

Associated Papers

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery.

Yeh TC et al.

Cornea, 2024

A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.

Chakravarty M et al.

European Journal of Ophthalmology, 2022

Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Malkondu F et al.

Turkish Journal of Ophthalmology, 2020

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.

Kattan JM et al.

Cornea, 2017

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA et al.

Ophthalmic Genetics, 2016

A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.

Kim J et al.

Korean Journal of Ophthalmology : Kjo, 2014

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

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

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.

Klintworth GK et al.

Investigative Ophthalmology & Visual Science, 2004

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

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report.

Rama P et al.

Arquivos Brasileiros De Oftalmologia, 0

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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."