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CFTR c.1717T>G ;(p.S573A)
Variant ID: 7-117230444-T-G
NM_000492.3(
CFTR
):c.1717T>G;(p.S573A)
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:
Mechanistic insight into control of CFTR by AMPK.
The Journal Of Biological Chemistry
Kongsuphol, Patthara P; Cassidy, Diane D; Hieke, Bernhard B; Treharne, Kate J KJ; Schreiber, Rainer R; Mehta, Anil A; Kunzelmann, Karl K
Publication Date: 2009-02-27
Variant appearance in text: CFTR: S573A
PubMed Link:
19095655
Variant Present in the following documents:
Main text
5645.pdf
View BVdb publication page