Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G186_L187insFs
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LDLR

NM_000527.5:p.G186_L187insFs

Associated Papers

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

Thiart R et al.

Human Mutation, 1998

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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."