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
Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.
Gerhardt MJ et al.
Biomedicines, 2022
Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.
Owczarek-Lipska M et al.
The Journal of Gene Medicine, 2020
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