Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.G195A
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OTC

NM_000531.6:p.G195A

Associated Papers

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

Gobin-Limballe S et al.

Journal of Inherited Metabolic Disease, 2021

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Laemmle A et al.

Plos One, 2016

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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."