CFTR c.3428_3429delinsGT ;(p.L1143C)

Variant ID: 7-117254727-TG-GT

NM_000492.3(CFTR):c.3428_3429delinsGT;(p.L1143C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cystic fibrosis transmembrane conductance regulator: a molecular model defines the architecture of the anion conduction path and locates a "bottleneck" in the pore.

Biochemistry
Norimatsu, Yohei Y; Ivetac, Anthony A; Alexander, Christopher C; Kirkham, John J; O'Donnell, Nicolette N; Dawson, David C DC; Sansom, Mark S P MS
Publication Date: 2012-03-20

Variant appearance in text: CFTR: L1143C
PubMed Link: 22352759
Variant Present in the following documents:
  • Main text
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