Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.H3570Y
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APOB

NM_000384.3:p.H3570Y

Associated Papers

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Huang MN et al.

Lipids in Health and Disease, 2024

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

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Totoń-Żurańska J et al.

Polish Archives of Internal Medicine, 2023

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Rutkowska L et al.

Genes, 2022

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.

Juhász L et al.

Cureus, 2020

Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia.

Galaska R et al.

Journal of Atherosclerosis and Thrombosis, 2016

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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."