Publications:

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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: P204Q

PubMed Link: 33987320

Variant Present in the following documents:

• atm-09-08-622.pdf

View BVdb publication page

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Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.

Nature Communications

Alcala, N N; Leblay, N N; Gabriel, A A G AAG; Mangiante, L L; Hervas, D D; Giffon, T T; Sertier, A S AS; Ferrari, A A; Derks, J J; Ghantous, A A; Delhomme, T M TM; Chabrier, A A; Cuenin, C C; Abedi-Ardekani, B B; Boland, A A; Olaso, R R; Meyer, V V; Altmuller, J J; Le Calvez-Kelm, F F; Durand, G G; Voegele, C C; Boyault, S S; Moonen, L L; Lemaitre, N N; Lorimier, P P; Toffart, A C AC; Soltermann, A A; Clement, J H JH; Saenger, J J; Field, J K JK; Brevet, M M; Blanc-Fournier, C C; Galateau-Salle, F F; Le Stang, N N; Russell, P A PA; Wright, G G; Sozzi, G G; Pastorino, U U; Lacomme, S S; Vignaud, J M JM; Hofman, V V; Hofman, P P; Brustugun, O T OT; Lund-Iversen, M M; Thomas de Montpreville, V V; Muscarella, L A LA; Graziano, P P; Popper, H H; Stojsic, J J; Deleuze, J F JF; Herceg, Z Z; Viari, A A; Nuernberg, P P; Pelosi, G G; Dingemans, A M C AMC; Milione, M M; Roz, L L; Brcic, L L; Volante, M M; Papotti, M G MG; Caux, C C; Sandoval, J J; Hernandez-Vargas, H H; Brambilla, E E; Speel, E J M EJM; Girard, N N; Lantuejoul, S S; McKay, J D JD; Foll, M M; Fernandez-Cuesta, L L

Publication Date: 2019-08-20

Variant appearance in text: MCDC1: 611C>A

PubMed Link: 31431620

Variant Present in the following documents:

• 41467_2019_11276_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 611C>A; P204Q

PubMed Link: 30716718

Variant Present in the following documents:

• aging-11-101807-s002.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MCDC1: P204Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CHST6: P204Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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: 611C>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

Molecular Vision

Sultana, Afia A; Klintworth, Gordon K GK; Thonar, Eugene J-M A EJ; Vemuganti, Geeta K GK; Kannabiran, Chitra C

Publication Date: 2009

Variant appearance in text: CHST6: Pro204Gln

PubMed Link: 19204788

Variant Present in the following documents:

• Main text
• mv-v15-319.pdf

View BVdb publication page

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