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CYBB c.345C>G ;(p.H115Q)
Variant ID: X-37652925-C-G
NM_000397.3(
CYBB
):c.345C>G;(p.H115Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Crystal structures and atomic model of NADPH oxidase.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A
Publication Date: 2017-06-27
Variant appearance in text: NOX2: His115Gln
PubMed Link:
28607049
Variant Present in the following documents:
Main text
View BVdb publication page