Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R272S
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CHST6

NM_021615.5:p.R272S

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

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

Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study.

Busse C et al.

Veterinary Ophthalmology, 2019

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

Zhang J et al.

Aging, 2019

A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers.

Tetas Pont R et al.

Veterinary Ophthalmology, 2016

Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.

Liu Z et al.

Cornea, 2010

[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

Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

Sultana A et al.

Molecular Vision, 2009

Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.

Sultana A et al.

Clinical Genetics, 2005

[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

Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.

Sultana A et al.

Molecular Vision, 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."