. . . . . . . . . . . . "[2 heterozygous deletion mutations (c.232delC in EP 70 and c.314 _ 316delCCT in EP 65) & a heterozygous splice site mutation (c.1118 + 1G > A in EP 69) were identified in patients with benign neonatal convulsions.]. 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 . "2014-10-02T12:33:16+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .