Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S587insFs
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LDLR

NM_000527.5:p.S587insFs

Associated Papers

Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy.

Kayikcioglu M et al.

Frontiers in Genetics, 2022

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Rieck L et al.

Clinical Genetics, 2020

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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."