Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.L82*
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OTC

NM_000531.6:p.L82*

Associated Papers

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

Kido J et al.

Frontiers in Genetics, 2022

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.

Ali EZ et al.

Biomed Research International, 2018

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M et al.

Human Mutation, 2002

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

McCullough BA et al.

American Journal of Medical Genetics, 2000

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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."