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HR c.595_596delinsGC ;(p.F199A)
Variant ID: 8-21986088-AA-GC
NM_005144.4(
HR
):c.595_596delinsGC;(p.F199A)
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:
A conserved region between the TPR and activation domains of p67phox participates in activation of the phagocyte NADPH oxidase.
The Journal Of Biological Chemistry
Maehara, Yuichi Y; Miyano, Kei K; Yuzawa, Satoru S; Akimoto, Risa R; Takeya, Ryu R; Sumimoto, Hideki H
Publication Date: 2010-10-08
Variant appearance in text: HR: F199A
PubMed Link:
20679349
Variant Present in the following documents:
Main text
View BVdb publication page