. . . . . . . . . . . . "[The GFAP gene of a Japanese girl who presented with typical symptoms of Alexander disease but in whom the diagnosis was not proven by histopathology was sequenced/missense mutation, R239C was identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:43:14+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .