HIGHLIGHTS
- who: Manar Aoun and collaborators from the Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, ItalyDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence have published the research: Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy, in the Journal: (JOURNAL)
- what: In this review the authors provide an overview of the genetic diagnostic workup needed to select patients that could be eligible for voretigene neparvovec treatment.
- how: The results showed that the p.Gly104Val and p.Pro467Ser protein VUSs were catalytically inactive indeed affected patients . . .
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