Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.I53F
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OTC

NM_000531.6:p.I53F

Associated Papers

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Clarkston K et al.

American Journal of Medical Genetics. Part A, 2021

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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."