Publications:

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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: 1222G>A

PubMed Link: 35796921

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1324.pdf

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The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.

The World Allergy Organization Journal

Qureshi, Sonia S; Mir, Fatima F; Junejo, Samina S; Saleem, Khalid K; Zaidi, Samreen S; Naveed, Abdullah B AB; Ahmad, Khalil K; Qamar, Farah Naz FN

Publication Date: 2020-07

Variant appearance in text: CYBB: 1222G>A

PubMed Link: 32793328

Variant Present in the following documents:

• Main text
• 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: G408R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: CYBB: 1222G>A; Gly408Arg

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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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: Gly408Arg

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: G408R; rs151344473

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Genetic disorders coupled to ROS deficiency.

Redox Biology

O'Neill, Sharon S; Brault, Julie J; Stasia, Marie-Jose MJ; Knaus, Ulla G UG

Publication Date: 2015-12

Variant appearance in text: CGD: G408R

PubMed Link: 26210446

Variant Present in the following documents:

• Main text

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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: G408R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: 1222G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

The Journal Of Biological Chemistry

Debeurme, Franck F; Picciocchi, Antoine A; Dagher, Marie-Claire MC; Grunwald, Didier D; Beaumel, Sylvain S; Fieschi, Franck F; Stasia, Marie-José MJ

Publication Date: 2010-10-22

Variant appearance in text: CGD: G408R

PubMed Link: 20724480

Variant Present in the following documents:

• Main text

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