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CYBB c.877C>T ;(p.Q293*)
Variant ID: X-37660581-C-T
NM_000397.3(
CYBB
):c.877C>T;(p.Q293*)
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:
Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease.
Genes
Calle-Fabregat, Carlos de la C; Morante-Palacios, Octavio O; Ballestar, Esteban E
Publication Date: 2020-01-18
Variant appearance in text: CYBB: Q293X
PubMed Link:
31963661
Variant Present in the following documents:
Main text
genes-11-00110.pdf
View BVdb publication page
Regulatory T cell features in chronic granulomatous disease.
Clinical And Experimental Immunology
van de Geer, A A; Cuadrado, E E; Slot, M C MC; van Bruggen, R R; Amsen, D D; Kuijpers, T W TW
Publication Date: 2019-08
Variant appearance in text: CGD: 877C>T
PubMed Link:
30924925
Variant Present in the following documents:
Main text
View BVdb publication page