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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.M1K

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RPE65

NM_000329.3:p.M1K

hg38:chr1:68449904 A>T

Associated Papers

Late presentation of RPE65 retinopathy in three siblings.

Magliyah M et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2020

31925606 (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."