Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.E148K
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RPE65

NM_000329.3:p.E148K

Associated Papers

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.

Jánossy Á et al.

Case Reports in Ophthalmology, 0

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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."