@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:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_head { this: np:hasAssertion dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_assertion; np:hasProvenance dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_provenance; np:hasPublicationInfo dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_publicationInfo; a np:Nanopublication . dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_assertion a np:Assertion . dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_provenance a np:Provenance . dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_publicationInfo a np:PublicationInfo . } dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_assertion { miriam-gene:2304 a ncit:C16612 . lld:C1563716 a ncit:C7057 . dgn-gda:DGN2222058b6fbb44ed6bc4ef18374af153 sio:SIO_000628 miriam-gene:2304, lld:C1563716; a sio:SIO_001121 . } dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_provenance { dgn-np:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_assertion dcterms:description "[Our study extends the variable clinical spectrum of patients with SLC26A4 mutations and points out the necessity to analyze the SLC26A4 gene in patients with apparent thyroid dysgenesis in addition to the known candidate genes TSHR, PAX8, NKX2.1, NKX2.5, and FOXE1.]. 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:24248179; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP404911.RAST9pXWgFzZI13KZ41moelMN_4WIGHEBdcSTT8PCUzCI130_publicationInfo { this: dcterms:created "2015-08-25T14:41:35+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }