Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.N131K
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RPE65

NM_000329.3:p.N131K

Associated Papers

RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy

Bjeloš M et al.

International Journal of Molecular Sciences, 2022

RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected.

Bjeloš M et al.

Case Reports in Ophthalmological Medicine, 2022

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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."