Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D415_S417insFs
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LDLR

NM_000527.5:p.D415_S417insFs

Associated Papers

Evinacumab Improved the Homozygous Familial Hypercholesterolemia Lipid Metabolism: A Case Report.

Matsuda T et al.

Journal of Atherosclerosis and Thrombosis, 2025

Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Nagahara K et al.

Journal of Atherosclerosis and Thrombosis, 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."