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

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 miss...

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Bibliographic Details
Main Authors: Jiawen Wu, Zhongmou Sun, Dao wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong Wu
Format: Article
Language:English
Published: PeerJ Inc. 2023-08-01
Series:PeerJ
Subjects:
Prediction model
RPE65
Leber congenital amaurosis (LCA)
Retinitis pigmentosa(RP)
Inherited retinal disease (IRDs)
Phenotype
Online Access:https://peerj.com/articles/15702.pdf

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