@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:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_head { this: np:hasAssertion dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_assertion; np:hasProvenance dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_provenance; np:hasPublicationInfo dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_publicationInfo; a np:Nanopublication . dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_assertion a np:Assertion . dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_provenance a np:Provenance . dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_publicationInfo a np:PublicationInfo . } dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_assertion { miriam-gene:55636 a ncit:C16612 . lld:C0162809 a ncit:C7057 . dgn-gda:DGN07449731d7eb962d8e47d10ae23f55d6 sio:SIO_000628 miriam-gene:55636, lld:C0162809; a sio:SIO_001121 . } dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_provenance { dgn-np:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_assertion dcterms:description "[A unifying hypothesis that could explain both the DiGeorge syndrome phenotype and the Kallman syndrome phenotype in patients with CHARGE syndrome may be that the mutation in CHD7 is likely to exert its effect in the common branch of the two pathways of neural crest cells.]. 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:21338411; 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:NP546981.RAjFbkZkFbAY_cpwkP5bwKIzyK5ShCz3a0opHioNzmcI4130_publicationInfo { this: dcterms:created "2014-10-02T12:37:30+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" . }