Associated Papers
Recapitulating familial hypercholesterolemia in a mouse model by knock-in patient-specific LDLR mutation.
Liu J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in
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
Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
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
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
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