. . . . . . . . . . . . "[Other mutations identified in Polish patients, c.131A>G (p.Asp44Gly), c.222C>A (p.Phe74Leu), c.385-1G>A (p.Asn129_Glu134del), c.482C>A (p.Ala161Glu), c.508C>T (p.Arg170Ter) and c.569G>A (p.Gly190Glu), have been reported previously in unrelated patients and are located within one of the clusters of hot spots of the HPRT1 gene (exons 3, 7 and 8).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-27"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:42:13+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .