Associated Papers
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.
Panneman DM et al.
Genes, 2025
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM1_ESM.pdf
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
Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.
Sanna A et al.
Pigment Cell & Melanoma Research, 2020
31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
Perrault I et al.
European Journal of Human Genetics : Ejhg, 2000
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