Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Y143*
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OTC

NM_000531.6:p.Y143*

Associated Papers

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

Kido J et al.

Frontiers in Genetics, 2022

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

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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."