Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C270C
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LDLR

NM_000527.5:p.C270C

Associated Papers

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

Mollaki V et al.

Annals of Human Genetics, 2013

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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."