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      A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants 

      Belloso Uribe, Kepa; Chemello, Kevin; Larrea Sebal, Asier; Benito Vicente, Asier ORCID; Bourane, Steeve; Jaafar, Ali K.; Lambert, Gilles; Martín Plágaro, César Augusto ORCID (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 ...