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PMID:
29175268
Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model.
Translational research : the journal of laboratory and clinical medicine
AF Hedayat, KH Park, TG Kwon, JR Woollard, K Jiang, DF Carlson, A Lerman, LO Lerman
2018-02
2 variants were identified in this publication
Variant ID
Gene
cDNA
Protein
Consequence
Exon
Intron
1-55523127-G-T
PCSK9
c.1120G>T
p.Asp374Tyr
Missense
7/12
-
1-55529215-C-A
PCSK9
c.2037C>A
p.Cys679*
Nonsense
12/12
-