Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.L111L
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OTC

NM_000531.6:p.L111L

Associated Papers

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M et al.

Human Mutation, 2002

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with 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."