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.




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
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