Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S130insFs
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LDLR

NM_000527.5:p.S130insFs

Associated Papers

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

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Doi T et al.

Journal of the American Heart Association, 2021

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

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Yu W et al.

Atherosclerosis, 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."