Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.R3527L
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APOB

NM_000384.3:p.R3527L

Associated Papers

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

Reimund M et al.

Nature, 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

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

Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters.

Todorovova V et al.

Frontiers in Genetics, 2022

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Elbitar S et al.

Scientific Reports, 2018

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