Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S206delFs
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LDLR

NM_000527.5:p.S206delFs

Associated Papers

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.

Callis M et al.

Molecular and Cellular Probes, 1998

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Varret M et al.

Nucleic Acids Research, 1998

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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."