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CYBB c.1212del ;(p.M405Cfs*2)
Variant ID: X-37664319-TG-T
NM_000397.3(
CYBB
):c.1212del;(p.M405Cfs*2)
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:
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Pediatric Allergy And Immunology : Official Publication Of The European Society Of Pediatric Allergy And Immunology
Gao, Li-Wei LW; Yin, Qing-Qin QQ; Tong, Yue-Juan YJ; Gui, Jin-Gang JG; Liu, Xiu-Yun XY; Feng, Xue-Li XL; Yin, Ju J; Liu, Jun J; Guo, Yan Y; Yao, Yao Y; Xu, Bao-Ping BP; He, Jian-Xin JX; Shen, Kun-Ling KL; Lau, Yu-Lung YL; Jiang, Zai-Fang ZF
Publication Date: 2019-05
Variant appearance in text: CYBB: 1212delG
PubMed Link:
30716179
Variant Present in the following documents:
Main text
PAI-30-378.pdf
View BVdb publication page