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CFTR c.607A>T ;(p.I203F)
Variant ID: 7-117175329-A-T
NM_000492.3(
CFTR
):c.607A>T;(p.I203F)
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:
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20
Variant appearance in text: CFTR: 607A>T; Ile203Phe
PubMed Link:
35858753
Variant Present in the following documents:
jmg-2022-108501supp001.pdf
View BVdb publication page
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Orphanet Journal Of Rare Diseases
Liu, Keqiang K; Xu, Wenshuai W; Xiao, Meng M; Zhao, Xinyue X; Bian, Chun C; Zhang, Qianli Q; Song, Jiaxing J; Chen, Keqi K; Tian, Xinlun X; Liu, Yaping Y; Xu, Kai-Feng KF; Zhang, Xue X
Publication Date: 2020-06-15
Variant appearance in text: CFTR: 607A>T; I203F
PubMed Link:
32539862
Variant Present in the following documents:
Main text
13023_2020_Article_1393.pdf
View BVdb publication page