. . . . . . . . . . . . "[Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-02-21"^^ . "2015-08-25T14:37:43+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .