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OptiMo-LDLr: an integrated In silico model with enhanced predictive power for LDL receptor variants, unraveling hot spot pathogenic residues
(Wiley, 2024-04)
Familial hypercholesterolemia (FH) is an inherited metabolic disease affecting cholesterol metabolism, with 90% of cases caused by mutations in the LDL receptor gene (LDLR), primarily missense mutations. This study aims ...