Associated Papers
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
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
39519200 (PubMed )
Supplement: ijms-25-11649-s001.zip › ijms-3279427-supplementary.pdf
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
38076877 (PubMed )
Supplement: media-1.xlsx › TableS3_RPE65
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65.
Uppal S et al.
Life Science Alliance, 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
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Li S et al.
Acta Ophthalmologica, 2020
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy.
Ramtohul P et al.
Ophthalmology. Retina, 2019
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
Katagiri S et al.
Molecular Vision, 2018
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
Hull S et al.
The British Journal of Ophthalmology, 2016
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Schatz P et al.
Ophthalmology, 2011
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