Associated Papers
Achilles Tendon Xanthoma Inflammation Revealed by FDG-PET/CT in Familial Hypercholesterolemia: Insights From a 2-Generation Case Series.
Nakayoshi T et al.
Jacc. Case Reports, 2026
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1
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
38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Rodríguez-Jiménez C et al.
Human Mutation, 2019
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