Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V395delFs
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LDLR

NM_000527.5:p.V395delFs

Associated Papers

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

Wright WT et al.

Clinical Genetics, 2008

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.

Graham CA et al.

Atherosclerosis, 2005

The molecular basis of familial hypercholesterolaemia in Turkish patients.

Sözen MM et al.

Atherosclerosis, 2005

Fluorescent sequencing for heterozygote mutation detection.

Graham CA et al.

Methods in Molecular Biology (clifton, N.j.), 2001

Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.

McClean E et al.

British Journal of Biomedical Science, 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."