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CREBBP c.7280T>A ;(p.V2427D)
Variant ID: 16-3777768-A-T
NM_004380.2(
CREBBP
):c.7280T>A;(p.V2427D)
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:
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: CREBBP: 7280T>A; V2427D
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01
Variant appearance in text: CREBBP: V2427D
PubMed Link:
33795819
Variant Present in the following documents:
42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page