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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXO1

Variant:p.V287F

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EXO1

NM_130398.4:p.V287F

hg38:chr1:241860619 G>T

Associated Papers

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.

Bereta G et al.

Biochemistry, 2008

18722466 (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."