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CYBB c.1066_1068delinsTGG ;(p.R356W)
Variant ID: X-37663298-CGC-TGG
NM_000397.3(
CYBB
):c.1066_1068delinsTGG;(p.R356W)
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:
Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency.
Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology
Izawa, Masako M; Aso, Keiko K; Higuchi, Asako A; Ariyasu, Daisuke D; Hasegawa, Yukihiro Y
Publication Date: 2007
Variant appearance in text: CGD: R356W
PubMed Link:
24790344
Variant Present in the following documents:
cpe-16-045.pdf
View BVdb publication page