Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W577C
Back to variants list

LDLR

NM_000527.5:p.W577C

Associated Papers

Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.

Metwally AM et al.

Lipids in Health and Disease, 2025

Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.

Kholaif N et al.

Atherosclerosis, 2025

The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.

Alshahrani A et al.

Advances in Therapy, 2024

38169062 (PubMed )
Supplement: 12325_2023_2764_MOESM1_ESM.pdf

The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia.

Al-Ashwal A et al.

Frontiers in Cardiovascular Medicine, 2024

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.

Yip MK et al.

Genes, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

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

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 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

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Awan ZA et al.

Frontiers in Medicine, 2021

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Ben-Omran T et al.

Advances in Therapy, 2019

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Awan ZA et al.

Current Opinion in Lipidology, 2019

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

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Benito-Vicente A et al.

International Journal of Molecular Sciences, 2018

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.

Morad FA et al.

Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.

Al-Allaf FA et al.

Acta Biochimica Polonica, 2017

Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.

Alsagheir A et al.

Journal of Clinical Lipidology, 0

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."