Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D601insFs
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LDLR

NM_000527.5:p.D601insFs

Associated Papers

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

Heath KE et al.

Atherosclerosis, 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."