Associated Papers
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.
Panneman DM et al.
Genes, 2025
An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65.
Poli G et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2023
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
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