. . . . . . . "[Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2? 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an additional form of ADH, which we designated ADH3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:35+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .