Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.I159M
Back to variants list

OTC

NM_000531.6:p.I159M

Associated Papers

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Chan TCH et al.

Clinical Case Reports, 2022

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

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.

Ben-Ari Z et al.

Journal of Hepatology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."