Associated Papers
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
40131152 (PubMed )
Supplement: mmc1.pdf
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
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
36865234 (PubMed )
Supplement: media-1.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
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
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