https://pmc.ncbi.nlm.nih.gov/articles/PMC7447476/
Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial...
Proprotein convertase subtilisin/kexin 9 or PCSK9 is a protein whose main function is to regulate the number of low-density lipoprotein receptors (LDLR)...
loss of function mutation