Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.I159N
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OTC

NM_000531.6:p.I159N

Associated Papers

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Chan TCH et al.

Clinical Case Reports, 2022

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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."