. . . . . . . "[We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene (KCTD7) in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop.]. 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 . "2017-10-17T13:19:09+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .