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
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
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
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Zhong Z et al.
Molecular Vision, 2019
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Srilekha S et al.
Plos One, 2015
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis.
Mamatha G et al.
Ophthalmic Genetics, 2008
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