Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S130*
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LDLR

NM_000527.5:p.S130*

Associated Papers

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

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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