Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P171_C184del14
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LDLR

NM_000527.5:p.P171_C184del14

Associated Papers

A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.

Moffa S et al.

Molecular Biology Reports, 2022

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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."