Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.V6fs
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CHST6

NM_021615.5:p.V6fs

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

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

Zhang J et al.

Aging, 2019

[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

Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

Liu NP et al.

Molecular Vision, 2006

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

Sultana A et al.

Clinical Genetics, 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."