. . . . . . . . . . . . "[We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:50:38+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .