Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.L559V
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TGFBI

NM_000358.3:p.L559V

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

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

Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.

Xiang Q et al.

Journal of Ophthalmology, 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

Pathogenesis and treatments of TGFBI corneal dystrophies.

Han KE et al.

Progress in Retinal and Eye Research, 2016

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

Lakshminarayanan R et al.

The Ocular Surface, 2014

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene.

Ołdak M et al.

Cornea, 2014

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.

Paliwal P et al.

Molecular Vision, 2010

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