Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y340Y
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RPE65

NM_000329.3:p.Y340Y

Associated Papers

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.

Panneman DM et al.

Genes, 2025

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
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