Associated Papers
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
LDLR variants functional characterization: Contribution to variant classification.
Alves AC et al.
Atherosclerosis, 2021
Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.
Hu H et al.
Frontiers in Genetics, 2021
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.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
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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