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CFTR c.1159_1160del ;(p.L387Nfs*23)
Variant ID: 7-117182112-CTT-C
NM_000492.3(
CFTR
):c.1159_1160del;(p.L387Nfs*23)
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:
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: 1159_1160delTT
PubMed Link:
35313924
Variant Present in the following documents:
Main text
13023_2022_2279_MOESM1_ESM.xls, sheet 1
13023_2022_Article_2279.pdf
View BVdb publication page
Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.
Evidence-Based Complementary And Alternative Medicine : Ecam
Chu, Yajuan Y; Shuai, Jinfeng J; Huang, Kunling K; Liu, Jianhua J; Lv, Wenshan W; Li, Baochi B
Publication Date: 2021
Variant appearance in text: CFTR: 1159_1160delTT; L387Nfs*23
PubMed Link:
34765005
Variant Present in the following documents:
Main text
ECAM2021-7254391.pdf
View BVdb publication page