. . . . . . . "[Neurodevelopmental disease familial dysautonomia (FD) caused by a single-base change in the 5'splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T > C).]. 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 . "2017-10-17T13:17:30+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .