Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.R155fs
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CHST6

NM_021615.5:p.R155fs

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

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.

Hao XD et al.

Experimental Eye Research, 2022

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

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.

Wang L et al.

Oncotarget, 2017

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.

Yaylacioglu Tuncay F et al.

Molecular Vision, 2016

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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."