Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D36del1
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LDLR

NM_000527.5:p.D36del1

Associated Papers

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

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J et al.

Human Mutation, 2001

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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."