Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V273Splc
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LDLR

NM_000527.5:p.V273Splc

Associated Papers

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.

Bourbon M et al.

Current Opinion in Lipidology, 2017

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."