@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_head { this: np:hasAssertion dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_assertion; np:hasProvenance dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_provenance; np:hasPublicationInfo dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_publicationInfo; a np:Nanopublication . dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_assertion a np:Assertion . dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_provenance a np:Provenance . dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_assertion { miriam-gene:3251 a ncit:C16612 . lld:C0023374 a ncit:C7057 . dgn-gda:DGN2959c05e66f00a280364c6f622d25d36 sio:SIO_000628 miriam-gene:3251, lld:C0023374; a sio:SIO_001121 . } dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_provenance { dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_assertion dcterms:description "[We characterized five unrelated patients with HPRT deficiency to understand the spectrum of molecular defects using Southern and Northern blot, polymerase chain amplification of HPRT mRNA and DNA sequencing, and oligonucleotide hybridization analysis of the HPRT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:2572141; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP266024.RApiC3QmTKjcVvTGjcshnIs32p07nAU0dIT-yUMJ9OqWQ130_publicationInfo { this: dcterms:created "2014-10-02T12:34:28+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }