Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E95K
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RPE65

NM_000329.3:p.E95K

Associated Papers

Unraveling the genetic diversity and adaptive traits of laboratory pig breeds within the perspective of whole - genome resequencing.

Yuan H et al.

Bmc Genomics, 2025

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.

Wang J et al.

Signal Transduction and Targeted Therapy, 2024

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
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