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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.S54F

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RPE65

NM_000329.3:p.S54F

hg38:chr1:68446794 G>A

Associated Papers

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

35052368 (PubMed )

Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf

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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."