Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.W232*
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CHST6

NM_021615.5:p.W232*

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

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

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.

Safari I et al.

International Ophthalmology, 2020

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.

Zhang J et al.

Aging, 2019

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Zhang J et al.

Frontiers in Genetics, 2019

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Huo YN et al.

Journal of Zhejiang University. Science. B, 2011

[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

Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

Ha NT et al.

Investigative Ophthalmology & Visual Science, 2003

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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."