Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N451Y
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RPE65

NM_000329.3:p.N451Y

Associated Papers

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J et al.

Korean Journal of Ophthalmology : Kjo, 2023

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J et al.

Peerj, 2023

37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC et al.

American Journal of Ophthalmology, 2019

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