Publications:

Variations in the Phagosomal Environment of Human Neutrophils and Mononuclear Phagocyte Subsets.

Frontiers In Immunology

Foote, Juliet R JR; Patel, Amit A AA; Yona, Simon S; Segal, Anthony W AW

Publication Date: 2019

Variant appearance in text: CYBB: 517delC

PubMed Link: 30881356

Variant Present in the following documents:

• Main text
• fimmu-10-00188.pdf

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High Efficiency Gene Correction in Hematopoietic Cells by Donor-Template-Free CRISPR/Cas9 Genome Editing.

Molecular Therapy. Nucleic Acids

Sürün, Duran D; Schwäble, Joachim J; Tomasovic, Ana A; Ehling, Roy R; Stein, Stefan S; Kurrle, Nina N; von Melchner, Harald H; Schnütgen, Frank F

Publication Date: 2018-03-02

Variant appearance in text: CYBB: 517delC; L173fs

PubMed Link: 29499925

Variant Present in the following documents:

• mmc1.pdf

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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: 517delC

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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