CFTR c.1397_1398delinsGG ;(p.S466W)

Variant ID: 7-117199522-CA-GG

NM_000492.3(CFTR):c.1397_1398delinsGG;(p.S466W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01

Variant appearance in text: CFTR: Ser466Trp
PubMed Link: 29497617
Variant Present in the following documents:
  • Main text
  • 00080-2017_supp.pdf
  • 00080-2017.pdf
View BVdb publication page