Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E101*
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LDLR

NM_000527.5:p.E101*

Associated Papers

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

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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."