Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R91insFs
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RPE65

NM_000329.3:p.R91insFs

Associated Papers

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Preising MN et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Paunescu K et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2005

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Lorenz B et al.

Ophthalmology, 2004

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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."