. . . . . . . . . . . . "[A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-05-13T12:42:05+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .