Publications:

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CYBB: 674+5G>A

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn.

Frontiers In Immunology

Miladinovic, Milica M; Wittekindt, Boris B; Fischer, Sebastian S; Gradhand, Elise E; Kunzmann, Steffen S; Zimmermann, Stefanie Y SY; Bakhtiar, Shahrzad S; Klingebiel, Thomas T; Schlösser, Rolf R; Lehrnbecher, Thomas T

Publication Date: 2021

Variant appearance in text: CGD: 674+5G>A

PubMed Link: 33854515

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: 674+5G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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