. . . . . . . . . . . . "[Phenylalanine hydroxylase (PAH) deficiency is inherited as an autosomal recessive trait and the associated hyperphenylalaninaemia phenotype is highly variable, primarily due to a great allelic heterogeneity at the PAH locus (approximately 400 disease-associated mutations are known).]. 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 . "2016-05-13T12:44:01+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .