Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.G71E
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OTC

NM_000531.6:p.G71E

Associated Papers

Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype.

Yu A et al.

Translational Pediatrics, 2023

37969118 (PubMed )
Supplement: tp-12-10-1887-prf.pdf

Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

Ma H et al.

Frontiers in Pediatrics, 2021

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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."