Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.L133_V134delFs
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RPE65

NM_000329.3:p.L133_V134delFs

Associated Papers

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.

Bianco L et al.

Investigative Ophthalmology & Visual Science, 2025

40261664 (PubMed )
Supplement: iovs-66-4-61_s002.pdf
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