Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L401F
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LDLR

NM_000527.5:p.L401F

Associated Papers

Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Matsunaga K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Wintjens R et al.

Journal of Lipid Research, 2016

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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."