Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.R92G
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OTC

NM_000531.6:p.R92G

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

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

Hiding in Plain Sight: A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation.

Ramanathan M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2017

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."