. . . . . . . . . . . . "[Patients with HPS from northwest Puerto Rico are homozygous for a 16-base pair (bp) duplication in exon 15 of HPS1, a gene on chromosome 10q23 known to cause the disorder.]. 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 . "2016-05-13T12:43:43+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .