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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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