CFTR c.3484_3485delinsAT ;(p.R1162I)

Variant ID: 7-117267591-CG-AT

NM_000492.3(CFTR):c.3484_3485delinsAT;(p.R1162I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics
Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A
Publication Date: 2017-07

Variant appearance in text: CFTR: R1162I
PubMed Link: 28502372
Variant Present in the following documents:
  • Main text
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