. . . . . . . "[Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit ?1C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psoriasis.]. 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 . "2017-10-17T13:19:06+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .