CFTR c.2184_2185insA ;(p.D729Rfs*2)

Variant ID: 7-117232405-T-TA

NM_000492.3(CFTR):c.2184_2185insA;(p.D729Rfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey

Turkish Journal Of Medical Sciences
Başaran, Abdurrahman Erdem AE; Başaran, Ayşen A; Kocacik, Dilara Fatma DF; Alper, Özgül Ö; Acican, Deniz D; Bingöl, Ayşen A
Publication Date: 2019-12-16

Variant appearance in text: CFTR: 2184insA
PubMed Link: 31655510
Variant Present in the following documents:
  • turkjmedsci-49-1655.pdf
View BVdb publication page



Cystic Fibrosis Plasma Blunts the Immune Response to Bacterial Infection.

American Journal Of Respiratory Cell And Molecular Biology
Zhang, Xi X; Pan, Amy A; Jia, Shuang S; Ideozu, Justin E JE; Woods, Katherine K; Murkowski, Kathleen K; Hessner, Martin J MJ; Simpson, Pippa M PM; Levy, Hara H
Publication Date: 2019-09

Variant appearance in text: CFTR: 2184_2185insA
PubMed Link: 30848661
Variant Present in the following documents:
  • Main text
View BVdb publication page