Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G374S
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LDLR

NM_000527.5:p.G374S

Associated Papers

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

Meshkov A et al.

Genes, 2021

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Leigh S et al.

Journal of Medical Genetics, 2017

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

Humphries SE et al.

Current Opinion in Lipidology, 2008

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

Leigh SE et al.

Annals of Human Genetics, 2008

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