Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D118delFs
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LDLR

NM_000527.5:p.D118delFs

Associated Papers

Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Wang X et al.

Journal of Geriatric Cardiology : Jgc, 2018

Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

Wright WT et al.

Clinical Genetics, 2008

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

Villéger L et al.

Human Mutation, 2002

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Heath KE et al.

European Journal of Human Genetics : Ejhg, 2001

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

Heath KE et al.

Atherosclerosis, 1999

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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."