CYBB c.962T>G ;(p.V321G)

Variant ID: X-37663194-T-G

NM_000397.3(CYBB):c.962T>G;(p.V321G)

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:

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Laugsch, Magdalena M; Rostovskaya, Maria M; Velychko, Sergiy S; Richter, Cornelia C; Zimmer, Ariane A; Klink, Barbara B; Schröck, Evelin E; Haase, Michael M; Neumann, Katrin K; Thieme, Sebastian S; Roesler, Joachim J; Brenner, Sebastian S; Anastassiadis, Konstantinos K
Publication Date: 2016-04

Variant appearance in text: CGD: 962T>G
PubMed Link: 26316390
Variant Present in the following documents:
  • Main text
  • mt2015154a.pdf
View BVdb publication page