@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:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_head { this: np:hasAssertion dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion; np:hasProvenance dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance; np:hasPublicationInfo dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo; a np:Nanopublication . dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion a np:Assertion . dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance a np:Provenance . dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo a np:PublicationInfo . } dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion { miriam-gene:2304 a ncit:C16612 . lld:C1563716 a ncit:C7057 . dgn-gda:DGNd2a133b334ae1b556d739833c4415b9c sio:SIO_000628 miriam-gene:2304, lld:C1563716; a sio:SIO_001121 . } dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance { dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion dcterms:description "[Most permanent cases (80-85%) result from alterations in the formation of the thyroid gland during embryogenesis (thyroid dysgenesis), and several were shown recently to be produced by mutations in genes responsible for the development of thyroid follicular cells (TITF1, TITF2, PAX8 and TSHR).]. 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:10637573; 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:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo { this: dcterms:created "2014-10-02T12:34:18+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" . }