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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2023
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| Materias: | |
| 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 |