Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S130*
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LDLR

NM_000527.5:p.S130*

Associated Papers

The High Price of Interrupted Follow-Up: Catastrophic Progression of Homozygous Familial Hypercholesterolemia-A Case Report and Literature Review.

Dastjerdi P et al.

Clinical Case Reports, 2026

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.

Do MTT et al.

Molecular Genetics and Metabolism Reports, 2025

Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.

Kim NT et al.

Bioinformatics and Biology Insights, 2024

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Moradi A et al.

Frontiers in Genetics, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Fairoozy RH et al.

Scientific Reports, 2017

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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."