Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.H117N
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OTC

NM_000531.6:p.H117N

Associated Papers

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.

Allegri G et al.

Journal of Inherited Metabolic Disease, 2019

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Rivera-Barahona A et al.

Plos One, 2015

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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."