Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D57_E58del1
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LDLR

NM_000527.5:p.D57_E58del1

Associated Papers

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

Lordfard S et al.

Cjc Open, 2025

41542120 (PubMed )
Supplement: mmc1.pdf

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

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L et al.

Human Mutation, 2002

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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."