Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.A620P
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TGFBI

NM_000358.3:p.A620P

Associated Papers

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

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Christie KA et al.

Scientific Reports, 2017

29170458 (PubMed )
Supplement: 41598_2017_16279_MOESM1_ESM.pdf

Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

Cao WP et al.

International Journal of Ophthalmology, 2017

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.

Evans CJ et al.

Investigative Ophthalmology & Visual Science, 2016

Pathogenesis and treatments of TGFBI corneal dystrophies.

Han KE et al.

Progress in Retinal and Eye Research, 2016

Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.

Jung JW et al.

Cornea, 2014

[Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].

Kawashima M et al.

Nippon Ganka Gakkai Zasshi, 2005

[Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene].

Nakagawa E et al.

Nippon Ganka Gakkai Zasshi, 2004

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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."