Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.S146*
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OTC

NM_000531.6:p.S146*

Associated Papers

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

Kido J et al.

Frontiers in Genetics, 2022

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Shchelochkov OA et al.

Molecular Genetics and Metabolism, 2009

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M et al.

Human Mutation, 2002

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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."