Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.G560Splc
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TGFBI

NM_000358.3:p.G560Splc

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

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

A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.

Lakshminarayanan R et al.

The British Journal of Ophthalmology, 2011

Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp.

Patel DA et al.

Cornea, 2010

Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy.

Edelstein SL et al.

Cornea, 2010

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

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

Atchaneeyasakul LO et al.

Japanese Journal of Ophthalmology, 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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