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...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Jiawen Wu, Zhongmou Sun, Dao wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong Wu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	PeerJ Inc. 2023-08-01
Schriftenreihe:	PeerJ
Schlagworte:	Prediction model RPE65 Leber congenital amaurosis (LCA) Retinitis pigmentosa(RP) Inherited retinal disease (IRDs) Phenotype
Online-Zugang:	https://peerj.com/articles/15702.pdf
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