Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.K80N
Back to variants list

OTC

NM_000531.6:p.K80N

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

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.

Allegri G et al.

Journal of Inherited Metabolic Disease, 2019

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.

Tarasenko TN et al.

Plos One, 2015

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M et al.

Human Mutation, 2002

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."