Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G32Splc
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RPE65

NM_000329.3:p.G32Splc

Associated Papers

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S et al.

Ophthalmology, 2010

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG et al.

Investigative Ophthalmology & Visual Science, 2009

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG et al.

Investigative Ophthalmology & Visual Science, 2008

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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."