Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K390*
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LDLR

NM_000527.5:p.K390*

Associated Papers

Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

Martin R et al.

Atherosclerosis, 2016

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

Wright WT et al.

Clinical Genetics, 2008

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."