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Variant ID: 1-55525306-CA-GC
NM_174936.3(
PCSK9
):c.1651_1652delinsGC;(p.H551A)
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:
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.
Journal Of Lipid Research
Holla, Øystein L ØL; Cameron, Jamie J; Tveten, Kristian K; Strøm, Thea Bismo TB; Berge, Knut Erik KE; Laerdahl, Jon K JK; Leren, Trond P TP
Publication Date: 2011-10
Variant appearance in text: PCSK9: H551A
PubMed Link:
21771976
Variant Present in the following documents:
Main text
View BVdb publication page