Publications:

A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report.

Respiratory Medicine Case Reports

Xu, Xuehua X; Lu, Bingtai B; Xie, Yaping Y; Yang, Diyuan D; Lu, Gen G; Fan, Huifeng H

Publication Date: 2020

Variant appearance in text: CYBB: 1234G>C

PubMed Link: 32963958

Variant Present in the following documents:

• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CYBB: G412R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: Gly412Arg

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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Streptococcal infections in patients with chronic granulomatous disease: case report and review of the literature.

Journal Of Clinical Immunology

Falcone, E Liana EL; Hanses, Stephan S; Stock, Frida F; Holland, Steven M SM; Zelazny, Adrian M AM; Uzel, Gulbu G

Publication Date: 2012-08

Variant appearance in text: CYBB: 1234G>C

PubMed Link: 22371289

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: 1234G>C

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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