Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.G623R
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TGFBI

NM_000358.3:p.G623R

Associated Papers

Release of frustration drives corneal amyloid disaggregation by brain chaperone.

Low JYK et al.

Communications Biology, 2023

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.

Jozaei R et al.

Ophthalmic Genetics, 2022

35473478 (PubMed )
Supplement: supplement_1.pdf

A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Mohammadi A et al.

Iranian Journal of Basic Medical Sciences, 2020

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Kheir V et al.

Human Mutation, 2019

Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.

Anandalakshmi V et al.

The Biochemical Journal, 2017

Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.

Lakshminarayanan R et al.

The Ocular Surface, 2015

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R et al.

The Ocular Surface, 2014

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

Gruenauer-Kloevekorn C et al.

The British Journal of Ophthalmology, 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

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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."