Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.R26Splc
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OTC

NM_000531.6:p.R26Splc

Associated Papers

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S et al.

Molecular Genetics and Metabolism, 2002

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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."