Publications:

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: CYBB: L505P

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Genetic and Clinical Profiles of Disseminated Bacillus Calmette-Guérin Disease and Chronic Granulomatous Disease in China.

Frontiers In Immunology

Li, Tao T; Zhou, Xian X; Ling, Yun Y; Jiang, Ning N; Ai, Jingwen J; Wu, Jing J; Chen, Jiazhen J; Chen, Li L; Qian, Xiaowen X; Liu, Xuhui X; Xi, Xiuhong X; Xia, Lu L; Fan, Xiaoyong X; Lu, Shuihua S; Zhang, Wen-Hong WH

Publication Date: 2019

Variant appearance in text: CYBB: 1514T>C

PubMed Link: 30761141

Variant Present in the following documents:

• Main text
• fimmu-10-00073.pdf

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Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A

Publication Date: 2017-06-27

Variant appearance in text: NOX2: Leu505Pro

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 1514T>C

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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