Associated Papers
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.
Panneman DM et al.
Genes, 2025
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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