. . . . . . . "[We describe a family harboring 2 SCN5A mutations: the ?KPQ mutation, the 'classical' gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation associated with Brugada syndrome.]. 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 . "2017-10-17T13:16:05+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .