Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R728delFs
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LDLR

NM_000527.5:p.R728delFs

Associated Papers

Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

Blesa S et al.

Clinical Chemistry, 2006

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P et al.

Human Mutation, 2004

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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."