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PCSK9 c.2034C>A ;(p.C678*)
Variant ID: 1-55529212-C-A
NM_174936.3(
PCSK9
):c.2034C>A;(p.C678*)
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:
Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).
Basic Research In Cardiology
Schulz, Rainer R; Schlüter, Klaus-Dieter KD; Laufs, Ulrich U
Publication Date: 2015-03
Variant appearance in text: PCSK9: C678X
PubMed Link:
25600226
Variant Present in the following documents:
Main text
395_2015_Article_463.pdf
View BVdb publication page