Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D569Splc
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LDLR

NM_000527.5:p.D569Splc

Associated Papers

Two Cases of Heterozygous Familial Hypercholesterolemia in Children Effectively Managed With Pitavastatin and Ezetimibe Combination Therapy.

Nishioka K et al.

Clinical Case Reports, 2025

Utility of Discrepancies Between Friedewald and Martin Equations in Predicting Pathogenic Variants of Familial Hypercholesterolemia in Children.

Tani R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2025

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

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.pdf

Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

Maruyama T et al.

Journal of Atherosclerosis and Thrombosis, 2004

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

Hattori H et al.

Journal of Human Genetics, 2002

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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."