Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E723*
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LDLR

NM_000527.5:p.E723*

Associated Papers

Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

Lordfard S et al.

Cjc Open, 2025

41542120 (PubMed )
Supplement: mmc1.pdf

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

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.

Gratton J et al.

Bmj Public Health, 2023

40017868 (PubMed )
Supplement: bmjph-1-1-s001.pdf

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.

Gratton J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

37409534 (PubMed )
Supplement: atv-43-1737-s001.pdf

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.

Marmontel O et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.

Gratton J et al.

Jacc. Advances, 2023

38938233 (PubMed )
Supplement: mmc1.docx

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Garg A et al.

Journal of the Endocrine Society, 2020

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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."