CFTR c.3067del ;(p.I1023*)

Variant ID: 7-117250651-GA-G

NM_000492.3(CFTR):c.3067del;(p.I1023*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Gastroenterology
Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC
Publication Date: 2011-01

Variant appearance in text: CFTR: 3067del
PubMed Link: 20977904
Variant Present in the following documents:
  • Main text
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