@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:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_head { this: np:hasAssertion dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_assertion; np:hasProvenance dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_provenance; np:hasPublicationInfo dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_publicationInfo; a np:Nanopublication . dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_assertion a np:Assertion . dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_provenance a np:Provenance . dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_publicationInfo a np:PublicationInfo . } dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_assertion { miriam-gene:8925 a ncit:C16612 . lld:C0162635 a ncit:C7057 . dgn-gda:DGN3b534b21686711350d4e76231b9a0fa1 sio:SIO_000628 miriam-gene:8925, lld:C0162635; a sio:SIO_001121 . } dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_provenance { dgn-np:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_assertion dcterms:description "[The phenotypic correlation with the mouse Herc1 and Herc2 mutants as well as the phenotypic overlap with Angelman syndrome provide further evidence that pathogenic changes in HERC2 are associated with nonsyndromic intellectual disability, autism, and gait disturbance.]. 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:23065719; 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:NP811446.RA4NSKJob9AGnqrGE_c8rmxH4inOYtEq38ptPBYAV0XlI130_publicationInfo { this: dcterms:created "2015-08-25T14:45:51+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" . }