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CYBB c.1442C>T ;(p.T481I)
Variant ID: X-37665767-C-T
NM_000397.3(
CYBB
):c.1442C>T;(p.T481I)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: CYBB: T481I
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.
Blood Cancer Journal
Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Díaz Arias, José Ángel JÁ; Bello López, José Luis JL
Publication Date: 2019-09-30
Variant appearance in text: CYBB: 1442C>T; T481I
PubMed Link:
31570692
Variant Present in the following documents:
41408_2019_243_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page