Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.E72_Y73Splc
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OTC

NM_000531.6:p.E72_Y73Splc

Associated Papers

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.

Dobrowolski SF et al.

Human Mutation, 2007

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.

Azevedo L et al.

Human Mutation, 2004

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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."