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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.P463H

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RPE65

NM_000329.3:p.P463H

hg38:chr1:68431127 G>T

Associated Papers

Retinal Structure in RPE65-Associated Retinal Dystrophy.

Kumaran N et al.

Investigative Ophthalmology & Visual Science, 2020

32347917 (PubMed )

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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."