Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.G269R
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OTC

NM_000531.6:p.G269R

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

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

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

Shao Y et al.

Clinical Genetics, 2017

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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."