Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S493del1
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LDLR

NM_000527.5:p.S493del1

Associated Papers

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.

Ncir WB et al.

Journal of Cellular and Molecular Medicine, 2026

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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."