Article
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
PeerJ - 1 Jan 2023
Wu Jiawen, Sun Zhongmou, Zhang Dao Wei, Liu Hong-Li, Li Ting, Zhang Shenghai, Wu Jihong
Abstract excerpt
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 missense variants of RPE65 were obtained from UniProt, ClinVar, and HGMD databases. The three-dimensional structure of...
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