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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTC

Variant:p.G100Splc

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OTC

NM_000531.6:p.G100Splc

hg38:chrX:38381341 G>A

Associated Papers

Ethnically unique disease burden and limitations of current expanded carrier screening panels.

Chen CL et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024

37681470 (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."