Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Q4Splc
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RPE65

NM_000329.3:p.Q4Splc

Associated Papers

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

Jacobson SG et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2012

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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."