Publications:

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Annals Of Translational Medicine

Huang, Yanxia Y; Yuan, Lamei L; Cao, Yanna Y; Tang, Renhong R; Xu, Hongbo H; Tang, Ziqian Z; Deng, Hao H

Publication Date: 2021-04

Variant appearance in text: CHST6: V66F

PubMed Link: 33987320

Variant Present in the following documents:

• atm-09-08-622.pdf

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

Aging

Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Dai, Yiqin Y; Xu, Jianjiang J

Publication Date: 2019-02-04

Variant appearance in text: CHST6: V66F

PubMed Link: 30716718

Variant Present in the following documents:

• aging-11-101807-s002.xlsx, sheet 1

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72547547

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72547547

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: CHST6: 196G>T

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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