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LDLR variant classification through activity-normalized prime editing screening.
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OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
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Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.
Porntadavity S et al.
The Protein Journal, 2019
Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.
Vijayakumar S et al.
Genes & Cancer, 2017
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
The molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW et al.
Human Genetics, 2001
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
Lombardi MP et al.
Clinical Genetics, 2000
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Hobbs HH et al.
Human Mutation, 1992
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