Associated Papers
Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.
Azizzadeh Pormehr L et al.
Investigative Ophthalmology & Visual Science, 2025
41051147 (PubMed )
Supplement: iovs-66-13-10_s001.pdf
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
Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.
Pormehr LA et al.
Biorxiv : the Preprint Server for Biology, 2025
39975398 (PubMed )
Supplement: NIHPP2025.01.31.635952V1-supplement-1.pdf
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Bereta G et al.
Biochemistry, 2008
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Simovich MJ et al.
Human Mutation, 2001
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