Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.S207R
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OTC

NM_000531.6:p.S207R

Associated Papers

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Cunningham SC et al.

Human Gene Therapy, 2023

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

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

Magesh R et al.

3 Biotech, 2014

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.

Matsuda I et al.

American Journal of Medical Genetics, 1997

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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."