An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65

An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65

AbstracthRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear pathogenicity classification or are labelled as VUS. In this context, we rec...

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Bibliographic Details
Main Authors: Giulio Poli, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Journal of Enzyme Inhibition and Medicinal Chemistry
Subjects:
RPE65
variant of uncertain significance (VUS)
molecular dynamics
missense mutations
Online Access:https://www.tandfonline.com/doi/10.1080/14756366.2022.2162047

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https://www.tandfonline.com/doi/10.1080/14756366.2022.2162047

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