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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.D221_C222insFs

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LDLR

NM_000527.5:p.D221_C222insFs

hg38:chr19:11105566 C>CGACT

Associated Papers

Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Tada H et al.

Practical Laboratory Medicine, 2015

28932795 (PubMed )

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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."