PMID: 34652028

LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal of clinical laboratory analysis
Hamasaki, Masato M, Sakane, Naoki N, Hara, Kazuo K, Kotani, Kazuhiko K

3 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505520-G-A PCSK9 c.10G>A p.V4I Missense 1/12 -