. . . . . . . "[2 pathogenic progranulin gene mutations in 4 frontotemporal dementia families were discovered: a single-base substitution within the 3'splice acceptor site of intron 6/exon 7 (g.5913A > G [IVS6-2A > G]) & a missense mutation in exon 1 (g.4068C > A)]. 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 . "2017-10-17T13:13:05+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .