CFTR c.1676C>A ;(p.A559E)

Variant ID: 7-117227884-C-A

NM_000492.3(CFTR):c.1676C>A;(p.A559E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell
Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL
Publication Date: 2012-01-20

Variant appearance in text: CFTR: A559E
PubMed Link: 22265408
Variant Present in the following documents:
  • Main text
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