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CFTR c.2646G>A ;(p.W882*)
Variant ID: 7-117242906-G-A
NM_000492.3(
CFTR
):c.2646G>A;(p.W882*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Apparent Yield Stress of Sputum as a Relevant Biomarker in Cystic Fibrosis.
Cells
Ghanem, Rosy R; Roquefort, Philippe P; Ramel, Sophie S; Laurent, Véronique V; Haute, Tanguy T; Le Gall, Tony T; Aubry, Thierry T; Montier, Tristan T
Publication Date: 2021-11-10
Variant appearance in text: CFTR: w882x
PubMed Link:
34831330
Variant Present in the following documents:
Main text
cells-10-03107.pdf
View BVdb publication page
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Pharmaceuticals (Basel, Switzerland)
Michorowska, Sylwia S
Publication Date: 2021-08-09
Variant appearance in text: CFTR: W882X
PubMed Link:
34451881
Variant Present in the following documents:
Main text
pharmaceuticals-14-00785.pdf
View BVdb publication page
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
Orphanet Journal Of Rare Diseases
De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A
Publication Date: 2017-08-22
Variant appearance in text: CFTR: W882X
PubMed Link:
28830496
Variant Present in the following documents:
Main text
13023_2017_Article_694.pdf
View BVdb publication page
CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.
Frontiers In Pharmacology
Lopes-Pacheco, Miquéias M
Publication Date: 2016
Variant appearance in text: CFTR: W882X
PubMed Link:
27656143
Variant Present in the following documents:
Main text
fphar-07-00275.pdf
View BVdb publication page