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CFTR c.1654_1655delinsGC ;(p.Q552A)
Variant ID: 7-117227862-CA-GC
NM_000492.3(
CFTR
):c.1654_1655delinsGC;(p.Q552A)
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:
On the mechanism of MgATP-dependent gating of CFTR Cl- channels.
The Journal Of General Physiology
Vergani, Paola P; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2003-01
Variant appearance in text: CFTR: Q552A
PubMed Link:
12508051
Variant Present in the following documents:
Main text
20028673.pdf
View BVdb publication page