Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.S98F
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CHST6

NM_021615.5:p.S98F

Associated Papers

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

30716718 (PubMed )
Supplement: aging-11-101807-s001.docx

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."