Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y419D
Back to variants list

LDLR

NM_000527.5:p.Y419D

Associated Papers

Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.

Ullah MF et al.

Biomolecules & Biomedicine, 2026

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

Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

Lordfard S et al.

Cjc Open, 2025

41542120 (PubMed )
Supplement: mmc1.pdf

Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.

Zahwo RA et al.

Human Genomics, 2025

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

Kholaif N et al.

Atherosclerosis, 2025

Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients.

Al-Numan HH et al.

Frontiers in Pediatrics, 2022

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

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.

Zhao PJ et al.

Cjc Open, 2019

32159113 (PubMed )
Supplement: mmc1.pdf

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

Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.

Alnouri F et al.

Atherosclerosis, 2018

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."