Publications:

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical And Experimental Immunology

Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A

Publication Date: 2020-10

Variant appearance in text: CYBB: W206X

PubMed Link: 32691468

Variant Present in the following documents:

• Main text

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

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Publication Date: 2015-06-26

Variant appearance in text: CYBB: W206X

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

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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: 618G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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