. . . . . . . "[We described a girl who developed seizures in infancy with atypical CT findings and in whom a novel heterozygous mutation, L90P (283T --> C), was detected in exon 1 of the GFAP gene.]. 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 . "2017-10-17T13:12:57+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .