Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D227insFs
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LDLR

NM_000527.5:p.D227insFs

Associated Papers

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Bochmann H et al.

Human Mutation, 2001

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

Ebhardt M et al.

Human Mutation, 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."