Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D307insFs
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LDLR

NM_000527.5:p.D307insFs

Associated Papers

Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

Blesa S et al.

Clinical Chemistry, 2006

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

García-García AB et al.

Human Mutation, 2001

Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.

Chaves FJ et al.

The Journal of Clinical Endocrinology and Metabolism, 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."