Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q686_H690delFs
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LDLR

NM_000527.5:p.Q686_H690delFs

Associated Papers

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

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

Villéger L et al.

Human Mutation, 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."