Publications:

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Structure of the core human NADPH oxidase NOX2.

Nature Communications

Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT

Publication Date: 2022-10-14

Variant appearance in text: NOX2: Ala488Asp

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

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Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology

Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X

Publication Date: 2022-10

Variant appearance in text: CGD: Ala488Asp

PubMed Link: 35796921

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1324.pdf

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BCGitis as the primary manifestation of chronic granulomatous disease.

Idcases

Khalili, Nastaran N; Mohammadzadeh, Iraj I; Khalili, Neda N; Heredia, Raúl Jimenez RJ; Zoghi, Samaneh S; Boztug, Kaan K; Rezaei, Nima N

Publication Date: 2021

Variant appearance in text: CYBB: 1463C>A

PubMed Link: 33425681

Variant Present in the following documents:

• Main text
• main.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: Ala488Asp

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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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: CGD: A488D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: CYBB: A488D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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