Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Y143Y
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OTC

NM_000531.6:p.Y143Y

Associated Papers

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Caldovic L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015

A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.

Mukhtar A et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013

H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.

Climent C et al.

Human Mutation, 2002

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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."