OptiMo‐LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues

Abstract Familial hypercholesterolemia (FH) is an inherited metabolic disease affecting cholesterol metabolism, with 90% of cases caused by mutations in the LDL receptor gene (LDLR), primarily missense mutations. This study aims to integrate six commonly used predictive software to create a new mode...

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Bibliographic Details
Main Authors: Asier Larrea‐Sebal, Iñaki Sasiain, Shifa Jebari‐Benslaiman, Unai Galicia‐Garcia, Kepa B. Uribe, Asier Benito‐Vicente, Irene Gracia‐Rubio, Harbil Bediaga‐Bañeres, Sonia Arrasate, Ana Cenarro, Fernando Civeira, Humberto González‐Díaz, Cesar Martín
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Advanced Science
Subjects:
Online Access:https://doi.org/10.1002/advs.202305177