Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.G39D
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OTC

NM_000531.6:p.G39D

Associated Papers

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.

Zheng Z et al.

Molecular Genetics & Genomic Medicine, 2020

[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].

Liu N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.

Haskins N et al.

Frontiers in Physiology, 2020

33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4

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

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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."