Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.I473_Q474insFs
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LDLR

NM_000527.5:p.I473_Q474insFs

Associated Papers

LDL-receptor mutations in Europe.

Dedoussis GV et al.

Human Mutation, 2004

Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.

Muller PY et al.

Atherosclerosis. Supplements, 2004

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2000

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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."