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CFTR c.310_311delinsCA ;(p.R104Q)
Variant ID: 7-117170989-AG-CA
NM_000492.3(
CFTR
):c.310_311delinsCA;(p.R104Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.
Pflugers Archiv : European Journal Of Physiology
Broadbent, Steven D SD; Ramjeesingh, Mohabir M; Bear, Christine E CE; Argent, Barry E BE; Linsdell, Paul P; Gray, Michael A MA
Publication Date: 2015-08
Variant appearance in text: CFTR: R104Q
PubMed Link:
25277268
Variant Present in the following documents:
Main text
424_2014_Article_1618.pdf
View BVdb publication page