@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:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_head { this: np:hasAssertion dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_assertion; np:hasProvenance dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_provenance; np:hasPublicationInfo dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_publicationInfo; a np:Nanopublication . dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_assertion a np:Assertion . dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_provenance a np:Provenance . dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_publicationInfo a np:PublicationInfo . } dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_assertion { miriam-gene:5077 a ncit:C16612 . lld:C0019569 a ncit:C7057 . dgn-gda:DGN41c8a4c85097cf3d9c5570cb820cd3fa sio:SIO_000628 miriam-gene:5077, lld:C0019569; a sio:SIO_001121 . } dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_provenance { dgn-np:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_assertion dcterms:description "[Linkage analyses performed in this family support the view that neither the RET locus (candidate for familial dominant Hirschsprung disease) nor the HuP2 locus (candidate for Waardenburg syndrome type I) are involved in the disease phenotype.]. 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:8877363; 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:NP534186.RAZRrCuPhAJ8SsLUdGzZtw-_Bfq3CHabJb5rd3MyvJNIs130_publicationInfo { this: dcterms:created "2014-10-02T12:37:22+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" . }