Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
Blokhina AV et al.
International Journal of Molecular Sciences, 2024
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
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.
Vasilyev V et al.
Frontiers in Genetics, 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
[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].
Korneva VA et al.
Kardiologiia, 2013
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
Zakharova FM et al.
Bmc Medical Genetics, 2005
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