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CFTR c.1585-9412A>G
Variant ID: 7-117218381-A-G
NM_000492.3(
CFTR
):c.1585-9412A>G
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Splicing mutations in the CFTR gene as therapeutic targets.
Gene Therapy
Deletang, Karine K; Taulan-Cadars, Magali M
Publication Date: 2022-08
Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link:
35650428
Variant Present in the following documents:
41434_2022_347_MOESM2_ESM.pdf
41434_2022_Article_347.pdf
View BVdb publication page
Transposon clusters as substrates for aberrant splice-site activation.
Rna Biology
Alvarez, Maria Elena Vilar MEV; Chivers, Martin M; Borovska, Ivana I; Monger, Steven S; Giannoulatou, Eleni E; Kralovicova, Jana J; Vorechovsky, Igor I
Publication Date: 2021-03
Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link:
32965162
Variant Present in the following documents:
KRNB_18_1805909.pdf
View BVdb publication page
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17
Variant appearance in text: CFTR: 1585-9412A>G; rs397508229
PubMed Link:
30996306
Variant Present in the following documents:
Main text
41598_2019_Article_42404.pdf
View BVdb publication page
Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.
Plos One
Sanz, David J DJ; Hollywood, Jennifer A JA; Scallan, Martina F MF; Harrison, Patrick T PT
Publication Date: 2017
Variant appearance in text: CFTR: 1584+18672A>G
PubMed Link:
28863137
Variant Present in the following documents:
Main text
pone.0184009.pdf
View BVdb publication page