Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C270*
Back to variants list

LDLR

NM_000527.5:p.C270*

Associated Papers

Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.

Takeji Y et al.

Journal of Atherosclerosis and Thrombosis, 2025

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2023

Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.

Reijman MD et al.

Current Opinion in Lipidology, 2023

36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Harada-Shiba M et al.

Journal of Atherosclerosis and Thrombosis, 2022

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

Meshkov A et al.

Genes, 2021

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Vasilyev V et al.

Frontiers in Genetics, 2020

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

Zakharova FM et al.

Genetika, 2007

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Zakharova FM et al.

Bmc Medical Genetics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."