Associated Papers
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.
Tabet DR et al.
Science (new York, N.y.), 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-2.xlsx › SuppTable2
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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R et al.
Atherosclerosis, 2017
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Bochmann H et al.
Human Mutation, 2001
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