Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
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
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Higa N et al.
Frontiers in Medicine, 2024
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
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