CFTR c.3774G>T ;(p.L1258F)

Variant ID: 7-117282548-G-T

NM_000492.3(CFTR):c.3774G>T;(p.L1258F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: L1258F
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.

Gut
Hohwieler, Meike M; Illing, Anett A; Hermann, Patrick C PC; Mayer, Tobias T; Stockmann, Marianne M; Perkhofer, Lukas L; Eiseler, Tim T; Antony, Justin S JS; Müller, Martin M; Renz, Susanne S; Kuo, Chao-Chung CC; Lin, Qiong Q; Sendler, Matthias M; Breunig, Markus M; Kleiderman, Susanne M SM; Lechel, André A; Zenker, Martin M; Leichsenring, Michael M; Rosendahl, Jonas J; Zenke, Martin M; Sainz, Bruno B; Mayerle, Julia J; Costa, Ivan G IG; Seufferlein, Thomas T; Kormann, Michael M; Wagner, Martin M; Liebau, Stefan S; Kleger, Alexander A
Publication Date: 2017-03

Variant appearance in text: CFTR: L1258F
PubMed Link: 27633923
Variant Present in the following documents:
  • Main text
View BVdb publication page