Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.L227L
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APOB

NM_000384.3:p.L227L

Associated Papers

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

Di Taranto MD et al.

Clinical Genetics, 2021

Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand.

Page MM et al.

Journal of Clinical Apheresis, 2021

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Smyth N et al.

Current Opinion in Lipidology, 2018

Association of peroxisome proliferator-activated receptor γ polymorphisms and haplotypes with essential hypertension.

Gu SJ et al.

Genetic Testing and Molecular Biomarkers, 2013

[Genotype and haplotype analysis of peroxisome proliferators activated receptor α gene and the risk of essential hypertension].

Ding Y et al.

Zhonghua Yi Xue Za Zhi, 2012

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Ezetimibe in the management of homozygous familial hypercholesterolaemia.

Mansfield BS et al.

Journal of Clinical Lipidology, 0

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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."