Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E558*
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LDLR

NM_000527.5:p.E558*

Associated Papers

Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2026

41683642 (PubMed )
Supplement: ijms-27-01214-s001.zip › ijms-4006452-supplementary.pdf

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2023

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Shakhtshneider E et al.

Journal of Personalized Medicine, 2021

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

Meshkov A et al.

Genes, 2021

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L et al.

Atherosclerosis, 2012

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

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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."