Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A399V
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LDLR

NM_000527.5:p.A399V

Associated Papers

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

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

2022 Consensus statement on the management of familial hypercholesterolemia in Korea.

Lee CJ et al.

The Korean Journal of Internal Medicine, 2022

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Kim H et al.

Journal of Atherosclerosis and Thrombosis, 2022

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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."