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NOTCH1 c.76C>T ;(p.Q26*)
Variant ID: 9-139438540-G-A
NM_017617.3(
NOTCH1
):c.76C>T;(p.Q26*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.
Frontiers In Pediatrics
Ishizuka, Maki M; Zou, Wenxin W; Whalen, Elise E; Ely, Erin E; Coleman, Ryan D RD; Lopez-Terrada, Dolores H DH; Penny, Daniel J DJ; Fan, Yuxin Y; Varghese, Nidhy P NP
Publication Date: 2023
Variant appearance in text: NOTCH1: 76C>T; Gln26*
PubMed Link:
37063688
Variant Present in the following documents:
fped-11-1050706.pdf
View BVdb publication page
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10
Variant appearance in text: NOTCH1: 76C>T; Q26*
PubMed Link:
35273153
Variant Present in the following documents:
41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: NOTCH1: 76C>T; Q26*
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page