Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W620S
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LDLR

NM_000527.5:p.W620S

Associated Papers

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

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Vasilyev VB et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

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

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

[The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)].

Korneva VA et al.

Kardiologiia, 2017

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Korneva VA et al.

Cholesterol, 2017

[Clinical signs of homozygous familial hypercholesterolemia].

Malyshev PP et al.

Kardiologiia, 2002

[Current concepts of the pathogenesis of familial hypercholesterolemia].

Khandaker AKh et al.

Kardiologiia, 1988

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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."