Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.I161T
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LDLR

NM_000527.5:p.I161T

Associated Papers

Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.

Reimund M et al.

Nature, 2025

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

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Zhang J et al.

Lipids in Health and Disease, 2022

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

Use of (18)F-FDG PET and MPI with (99m)Tc-MIBI in a patient with delayed diagnosis of homozygous familial hypercholesterolemia.

Jiao J et al.

International Journal of Cardiology, 2015

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