. . . . . . . . . . . . "[Patients with symptomatic EPP (photosensitivity with/without hepatobiliary disease) usually have a mutation in 1 FECH allele that alters enzyme structure/function, together with a polymorphism in the nonmutant allele that causes low gene expression.]. 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 . "2016-05-13T12:45:57+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .