Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.A237D
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OTC

NM_000531.6:p.A237D

Associated Papers

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Choi JH et al.

Journal of Human Genetics, 2015

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

Lee JH et al.

Pediatric Neurology, 2014

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

Kim GH et al.

Human Mutation, 2006

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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."