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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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