CFTR c.178_180delinsTAT ;(p.E60Y)

Variant ID: 7-117149101-GAG-TAT

NM_000492.3(CFTR):c.178_180delinsTAT;(p.E60Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.

The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC
Publication Date: 2020-02

Variant appearance in text: CFTR: E60Y
PubMed Link: 31585024
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Glu60Tyr
PubMed Link: 29497617
Variant Present in the following documents:
  • Main text
  • 00080-2017_supp.pdf
  • 00080-2017.pdf
View BVdb publication page