Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.Q298insFs
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CHST6

NM_021615.5:p.Q298insFs

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

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

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.

Birgani SA et al.

Molecular Vision, 2009

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