CYBB c.1661_1662delinsAA ;(p.S554*)

Variant ID: X-37670118-CT-AA

NM_000397.3(CYBB):c.1661_1662delinsAA;(p.S554*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd
Hill, Harry R HR; Augustine, Nancy H NH; Pryor, Robert J RJ; Reed, Gudrun H GH; Bagnato, Joshua D JD; Tebo, Anne E AE; Bender, Jeffrey M JM; Pasi, Brian M BM; Chinen, Javier J; Hanson, I Celine IC; de Boer, Martin M; Roos, Dirk D; Wittwer, Carl T CT
Publication Date: 2010-05

Variant appearance in text: CYBB: S554X
PubMed Link: 20228266
Variant Present in the following documents:
  • Main text
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