Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R81insFs
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LDLR

NM_000527.5:p.R81insFs

Associated Papers

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L et al.

Human Mutation, 2002

Identification of two LDL-receptor mutations causing familial hypercholesterolemia in Indian subjects by a simplified rapid PCR-heteroduplex method.

Ashavaid TF et al.

Clinical Chemistry, 2000

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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."