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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCO2

Variant:p.P55L

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SCO2

NM_005138.3:p.P55L

hg38:chr22:50524248 G>A

Associated Papers

Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.

Xin W et al.

Ophthalmic Genetics, 2016

26848971 (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."