CFTR c.2188G>T ;(p.E730*)

Variant ID: 7-117232409-G-T

NM_000492.3(CFTR):c.2188G>T;(p.E730*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
Publication Date: 2022-08

Variant appearance in text: CFTR: 2188G>T; E730X
PubMed Link: 35086832
Variant Present in the following documents:
  • ERJ-00508-2021.Supplement.pdf
View BVdb publication page



Folding-function relationship of the most common cystic fibrosis-causing CFTR conductance mutants.

Life Science Alliance
van Willigen, Marcel M; Vonk, Annelotte M AM; Yeoh, Hui Ying HY; Kruisselbrink, Evelien E; Kleizen, Bertrand B; van der Ent, Cornelis K CK; Egmond, Maarten R MR; de Jonge, Hugo R HR; Braakman, Ineke I; Beekman, Jeffrey M JM; van der Sluijs, Peter P
Publication Date: 2019-02

Variant appearance in text: CFTR: E730X
PubMed Link: 30659068
Variant Present in the following documents:
  • Main text
  • LSA-2018-00172_review_history.pdf
  • LSA-2018-00172.pdf
View BVdb publication page