Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y828H
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LDLR

NM_000527.5:p.Y828H

Associated Papers

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

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

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.

Gaunt TR et al.

Human Molecular Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."