CFTR c.1663A>G ;(p.R555G)

Variant ID: 7-117227871-A-G

NM_000492.3(CFTR):c.1663A>G;(p.R555G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry
Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ
Publication Date: 2010-11-12

Variant appearance in text: CFTR: R555G
PubMed Link: 20667826
Variant Present in the following documents:
  • Main text
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