Bibliome.ai browser hg19
Search
About
Stats
FAQ
CYBB c.22G>T ;(p.E8*)
Variant ID: X-37639352-G-T
NM_000397.3(
CYBB
):c.22G>T;(p.E8*)
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:
Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
The Journal Of Experimental Medicine
Neehus, Anna-Lena AL; Moriya, Kunihiko K; Nieto-Patlán, Alejandro A; Le Voyer, Tom T; Lévy, Romain R; Özen, Ahmet A; Karakoc-Aydiner, Elif E; Baris, Safa S; Yildiran, Alisan A; Altundag, Engin E; Roynard, Manon M; Haake, Kathrin K; Migaud, Mélanie M; Dorgham, Karim K; Gorochov, Guy G; Abel, Laurent L; Lachmann, Nico N; Dogu, Figen F; Haskologlu, Sule S; İnce, Erdal E; El-Benna, Jamel J; Uzel, Gulbu G; Kiykim, Ayca A; Boztug, Kaan K; Roderick, Marion R MR; Shahrooei, Mohammad M; Brogan, Paul A PA; Abolhassani, Hassan H; Hancioglu, Gonca G; Parvaneh, Nima N; Belot, Alexandre A; Ikinciogullari, Aydan A; Casanova, Jean-Laurent JL; Puel, Anne A; Bustamante, Jacinta J
Publication Date: 2021-09-06
Variant appearance in text: CGD: glu8*
PubMed Link:
34264265
Variant Present in the following documents:
JEM_20210501.pdf
View BVdb publication page