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Article

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.

Current atherosclerosis reports - 1 Nov 2023

Larrea-Sebal Asier, Jebari-Benslaiman Shifa, Galicia-Garcia Unai, Jose-Urteaga Ane San, Uribe Kepa B, Benito-Vicente Asier, Martín César

Abstract excerpt

PURPOSE OF REVIEW: Familial hypercholesterolemia (FH) is a hereditary condition characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), which increases the risk of cardiovascular disease if left untreated. This review aims to discuss the role of bioinformatics tools in evaluating the pathogenicity of missense variants associated with FH. Specifically, it highlights the use of predictive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37847331
DOI: 10.1007/s11883-023-01154-7
PMCID: PMC10618353

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