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CFTR c.1522_1523delinsCA ;(p.F508H)
Variant ID: 7-117199647-TT-CA
NM_000492.3(
CFTR
):c.1522_1523delinsCA;(p.F508H)
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:
Phenotypic Alteration of an Established Human Airway Cell Line by Media Selection.
International Journal Of Molecular Sciences
Livnat, Galit G; Meeker, Jessica D JD; Ostmann, Alicia J AJ; Strecker, Lauren M LM; Clancy, John P JP; Brewington, John J JJ
Publication Date: 2023-01-08
Variant appearance in text: CFTR: F508H
PubMed Link:
36674762
Variant Present in the following documents:
ijms-24-01246.pdf
View BVdb publication page
The Contribution of the Airway Epithelial Cell to Host Defense.
Mediators Of Inflammation
Stanke, Frauke F
Publication Date: 2015
Variant appearance in text: CFTR: F508H
PubMed Link:
26185361
Variant Present in the following documents:
Main text
MI2015-463016.pdf
View BVdb publication page
Side chain and backbone contributions of Phe508 to CFTR folding.
Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01
Variant appearance in text: CFTR: F508H
PubMed Link:
15619636
Variant Present in the following documents:
Main text
View BVdb publication page