. . . . . . . "[Mutations in the ornithine transcarbamylase gene found in patients with hyperammonaemia of the 'neonatal type' are clustered in important structural or functional domains, either in the interior of the protein, at the active site, or at the interchain interface, while mutations found in patients with milder 'late onset' disease are located primarily on the surface of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:08+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .