CFTR c.334_335delinsTG ;(p.D112C)

Variant ID: 7-117171013-GA-TG

NM_000492.3(CFTR):c.334_335delinsTG;(p.D112C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Infield, Daniel T DT; Cui, Guiying G; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2016-03-01

Variant appearance in text: CFTR: D112C
PubMed Link: 26684250
Variant Present in the following documents:
  • Main text
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