Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Q282*
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OTC

NM_000531.6:p.Q282*

Associated Papers

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

Yokoi K et al.

Bmc Medical Genetics, 2018

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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."