Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.I4377T
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APOB

NM_000384.3:p.I4377T

Associated Papers

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

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Huijgen R et al.

Human Mutation, 2010

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

Liyanage KE et al.

Annals of Clinical Biochemistry, 2008

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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."