Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.E52G
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OTC

NM_000531.6:p.E52G

Associated Papers

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

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.

Magesh R et al.

3 Biotech, 2014

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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."