Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L401H
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LDLR

NM_000527.5:p.L401H

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

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Atava I et al.

International Journal of Molecular Sciences, 2024

Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.

Alieva A et al.

European Journal of Internal Medicine, 2024

Membrane Transporter of Serotonin and Hypercholesterolemia in Children.

Sadykova D et al.

International Journal of Molecular Sciences, 2024

Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels.

Jokiniitty A et al.

Frontiers in Cardiovascular Medicine, 2024

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2023

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease.

Jokiniitty A et al.

Atherosclerosis Plus, 2022

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Nurm M et al.

Frontiers in Genetics, 2022

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

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Meshkov AN 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

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Vasilyev V et al.

Frontiers in Genetics, 2020

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Alver M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30270359 (PubMed )
Supplement: 41436_2018_311_MOESM5_ESM.pdf

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

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

Dušková L et al.

Atherosclerosis, 2011

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Zakharova FM et al.

Genetika, 2007

LDL-receptor mutations in Europe.

Dedoussis GV et al.

Human Mutation, 2004

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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."