CYBB c.595_596delinsCA ;(p.R199Q)

Variant ID: X-37655315-AG-CA

NM_000397.3(CYBB):c.595_596delinsCA;(p.R199Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells.

International Journal Of Nanomedicine
Brault, Julie J; Vaganay, Guillaume G; Le Roy, Aline A; Lenormand, Jean-Luc JL; Cortes, Sandra S; Stasia, Marie José MJ
Publication Date: 2017

Variant appearance in text: NOX2: R199Q
PubMed Link: 28356734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events.

Biochimica Et Biophysica Acta
Carrichon, Laure L; Picciocchi, Antoine A; Debeurme, Franck F; Defendi, Federica F; Beaumel, Sylvain S; Jesaitis, Algirdas J AJ; Dagher, Marie-Claire MC; Stasia, Marie-José MJ
Publication Date: 2011-01

Variant appearance in text: CGD: R199Q
PubMed Link: 20708598
Variant Present in the following documents:
  • Main text
View BVdb publication page