Associated Papers
Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Lee YJ et al.
American Journal of Ophthalmology, 2025
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z et al.
Eye (london, England), 2022
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