Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P563insFs
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LDLR

NM_000527.5:p.P563insFs

Associated Papers

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

Hattori H et al.

Journal of Human Genetics, 2002

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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."