Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E335G
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RPE65

NM_000329.3:p.E335G

Associated Papers

Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.

Merle DA et al.

Translational Vision Science & Technology, 2025

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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