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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants
(MDPI, 2021-12-18)
Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 ...