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
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
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 › TableS7_tiling_screen.xlsx › TableSX_tiling_screen
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 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
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
Whyte MP et al.
Bone, 2018
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.
He WT et al.
Clinical Genetics, 2016
[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].
Zakharova FM et al.
Genetika, 2007
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
[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].
Tatishcheva IuA et al.
Genetika, 2001
Select a paper to view details