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CFTR c.753_754del ;(p.R251Sfs*6)
Variant ID: 7-117176606-CAG-C
NM_000492.3(
CFTR
):c.753_754del;(p.R251Sfs*6)
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: 753_754delAG; Arg251SerfsX6
PubMed Link:
35858753
Variant Present in the following documents:
jmg-2022-108501supp001.pdf
jmg-2022-108501.pdf
View BVdb publication page
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.
World Journal Of Clinical Cases
Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M
Publication Date: 2019-08-06
Variant appearance in text: CFTR: 753_754delAG; R251Sfs
PubMed Link:
31423445
Variant Present in the following documents:
Main text
WJCC-7-2110.pdf
View BVdb publication page