Associated Papers
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
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 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
Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.
Korneva V et al.
Atherosclerosis. Supplements, 2017
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
Korneva VA et al.
Cholesterol, 2017
[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].
Korneva VA et al.
Klinicheskaia Meditsina, 2014
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.
Komarova TY et al.
Bmc Medical Genetics, 2013
Select a paper to view details