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CFTR c.2698_2700delinsCAA ;(p.N900Q)
Variant ID: 7-117243626-AAT-CAA
NM_000492.3(
CFTR
):c.2698_2700delinsCAA;(p.N900Q)
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:
Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin.
Molecular And Cellular Biology
Farinha, Carlos M CM; Amaral, Margarida D MD
Publication Date: 2005-06
Variant appearance in text: CFTR: N900Q
PubMed Link:
15923638
Variant Present in the following documents:
Main text
View BVdb publication page