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CYBB c.272G>T ;(p.R91L)
Variant ID: X-37651247-G-T
NM_000397.3(
CYBB
):c.272G>T;(p.R91L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient.
Biomedicines
Gunderman, Lauren L; Brown, Jeffrey J; Chaudhury, Sonali S; O'Gorman, Maurice M; Fuleihan, Ramsay R; Khanolkar, Aaruni A; Ahmed, Aisha A
Publication Date: 2023-03-21
Variant appearance in text: CYBB: 272G>T
PubMed Link:
36979938
Variant Present in the following documents:
Main text
biomedicines-11-00959.pdf
View BVdb publication page
Structure of the core human NADPH oxidase NOX2.
Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14
Variant appearance in text: NOX2: Arg91Leu
PubMed Link:
36241643
Variant Present in the following documents:
41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page