Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.G100Splc
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OTC

NM_000531.6:p.G100Splc

Associated Papers

A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.

Mukhtar A et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

Engel K et al.

Molecular Genetics and Metabolism, 2008

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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."