Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.E274K
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CHST6

NM_021615.5:p.E274K

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

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

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › REACT-009

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

Zhang J et al.

Aging, 2019

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

Park SH et al.

Molecular Vision, 2015

Molecular genetic analysis of macular corneal dystrophy patients from North India.

Paliwal P et al.

Ophthalmic Research, 2012

Molecular genetic study of Egyptian patients with macular corneal dystrophy.

El-Ashry MF et al.

The British Journal of Ophthalmology, 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

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

Warren JF et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2003

Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

Iida-Hasegawa N et al.

Investigative Ophthalmology & Visual Science, 2003

Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.

Akama TO et al.

The Journal of Biological Chemistry, 2001

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

Akama TO et al.

Nature Genetics, 2000

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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."