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CREBBP c.5242_5243insAGTGCC ;(p.G1748delinsECR)
Variant ID: 16-3779805-C-CGGCACT
NM_004380.2(
CREBBP
):c.5242_5243insAGTGCC;(p.G1748delinsECR)
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:
De novo mutations in folate-related genes associated with common developmental disorders.
Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021
Variant appearance in text: CREBBP: 5242_5243insAGTGCC
PubMed Link:
33777337
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page