@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:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_head { this: np:hasAssertion dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_assertion; np:hasProvenance dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_provenance; np:hasPublicationInfo dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_publicationInfo; a np:Nanopublication . dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_assertion a np:Assertion . dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_provenance a np:Provenance . dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_assertion { miriam-gene:84679 a ncit:C16612 . lld:C0162635 a ncit:C7057 . dgn-gda:DGNa6044bbe7ff0ee6578a4d6f814885423 sio:SIO_000628 miriam-gene:84679, lld:C0162635; a sio:SIO_001121 . } dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_provenance { dgn-np:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_assertion dcterms:description "[Clinical features characterizing Angelman syndrome, previously shown to be caused by disruption of UBE3A, were recently also described in neurologically disabled patients with mutations in SLC9A6, which encodes the Na(+)/H(+) exchanger NHE6.]. 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:19619532; 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:NP766496.RA9L3q_sF7SVC4iMO6B5FsGQXpFNtSZNHnuJ21VfQQCUQ130_publicationInfo { this: dcterms:created "2014-10-02T12:39:44+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" . }