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

hRPE65 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 recently de...

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Detalles Bibliográficos
Autores principales: Poli, Giulio, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848331/
https://www.ncbi.nlm.nih.gov/pubmed/36629452
http://dx.doi.org/10.1080/14756366.2022.2162047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848331/
https://www.ncbi.nlm.nih.gov/pubmed/36629452
http://dx.doi.org/10.1080/14756366.2022.2162047

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