Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.S144R
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TGFBI

NM_000358.3:p.S144R

Associated Papers

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Huang Y et al.

Annals of Translational Medicine, 2021

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.

Wang L et al.

Oncotarget, 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

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

Qi YH et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010

[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].

Tian X et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

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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."