PMID: 30222160

A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9.

Journal of visualized experiments : JoVE
JS Chorba, AM Galvan, KM Shokat
2018-08-28

2 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -