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NOTCH1 c.5440G>A ;(p.G1814R)
Variant ID: 9-139396485-C-T
NM_017617.3(
NOTCH1
):c.5440G>A;(p.G1814R)
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:
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07
Variant appearance in text: NOTCH1: 5440G>A; G1814R; rs201968456
PubMed Link:
35665681
Variant Present in the following documents:
mmc26.xlsx, sheet 1
View BVdb publication page
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Nature Communications
Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S
Publication Date: 2022-03-28
Variant appearance in text: NOTCH1: G1814R
PubMed Link:
35347147
Variant Present in the following documents:
41467_2022_29336_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page