Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.A145P
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RPE65

NM_000329.3:p.A145P

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

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."