Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G844S
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LDLR

NM_000527.5:p.G844S

Associated Papers

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.

Do MTT et al.

Molecular Genetics and Metabolism Reports, 2025

Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.

Supriami K et al.

Jama Network Open, 2025

39836422 (PubMed )
Supplement: jamanetwopen-e2455368-s001.pdf

Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.

Kim NT et al.

Bioinformatics and Biology Insights, 2024

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

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-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

A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.

Gratton J et al.

Jacc. Advances, 2023

38938233 (PubMed )
Supplement: mmc1.docx
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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."