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.




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