Associated Papers
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.
Aparicio A et al.
Journal of Clinical Medicine, 2023
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Larrea-Sebal A et al.
Jacc. Basic to Translational Science, 2021
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
Patterns and mutational signatures of tandem base substitutions causing human inherited disease.
Chen JM et al.
Human Mutation, 2013
A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia.
Ajmal M et al.
Genetic Testing and Molecular Biomarkers, 2011
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