Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.A209E
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OTC

NM_000531.6:p.A209E

Associated Papers

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D et al.

Orphanet Journal of Rare Diseases, 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

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

Han F et al.

Zhonghua Yi Xue Za Zhi, 2014

[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].

Wang Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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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."