Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G528_L529delFs
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RPE65

NM_000329.3:p.G528_L529delFs

Associated Papers

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.

Jauregui R et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."