Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.K289_T290Splc
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OTC

NM_000531.6:p.K289_T290Splc

Associated Papers

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

Henriques M et al.

Journal of Child Neurology, 2012

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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."