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CFTR c.1330A>T ;(p.I444F)
Variant ID: 7-117188815-A-T
NM_000492.3(
CFTR
):c.1330A>T;(p.I444F)
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:
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05
Variant appearance in text: CFTR: 1330A>T; Ile444Phe
PubMed Link:
36604502
Variant Present in the following documents:
41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21
Variant appearance in text: CFTR: 1330A>T; Ile444Phe
PubMed Link:
35313924
Variant Present in the following documents:
13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page