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PMID:
36527064
PCSK9 inhibition and cholesterol homeostasis in insulin producing β-cells.
Lipids in health and disease
Päth, Günter G, Perakakis, Nikolaos N, Mantzoros, Christos S CS, Seufert, Jochen J
2022-12-16
3 variants were identified in this publication
Variant ID
Gene
cDNA
Protein
Consequence
Exon
Intron
1-55529215-C-A
PCSK9
c.2037C>A
p.C679*
Nonsense
12/12
-
1-55505647-G-T
PCSK9
c.137G>T
p.R46L
Missense
1/12
-
1-55523855-G-A
PCSK9
c.1327G>A
p.A443T
Missense
8/12
-