. . . . . . . "[A de novo t (4; 8) (p13; p22) translocation in a girl with Hirschsprung's disease contained a 4p12p13 deletion affecting the PMX2B gene/haploinsuffciency might predispose to HSCR.]. 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 . "2017-10-17T13:17:38+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .