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Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants

PURPOSE: This study aimed to develop a prediction model to classify RPE65-mediated inherited retinal disease (IRDs) based on protein secondary structure and to analyze phenotype-protein structure correlations of RPE65 missense variants in a Chinese cohort. METHODS: Pathogenic or likely pathogenic mi...

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Detalles Bibliográficos
Autores principales:	Wu, Jiawen, Sun, Zhongmou, Zhang, Dao wei, Liu, Hong-Li, Li, Ting, Zhang, Shenghai, Wu, Jihong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10404030/ https://www.ncbi.nlm.nih.gov/pubmed/37547722 http://dx.doi.org/10.7717/peerj.15702

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