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 -