CFTR c.4248_4249insT ;(p.E1417*)

Variant ID: 7-117306967-A-AT

NM_000492.3(CFTR):c.4248_4249insT;(p.E1417*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Disease Markers
Essawi, O O; Farraj, M M; De Leeneer, K K; Steyaert, W W; De Pauw, K K; De Paepe, A A; Claes, K K; Essawi, T T; Coucke, P J PJ
Publication Date: 2015

Variant appearance in text: CFTR: Glu1417fs
PubMed Link: 25688174
Variant Present in the following documents:
  • Main text
  • DM2015-458653.pdf
View BVdb publication page