@prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_head { this: np:hasAssertion dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion; np:hasProvenance dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance; np:hasPublicationInfo dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo; a np:Nanopublication . dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion a np:Assertion . dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance a np:Provenance . dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo a np:PublicationInfo . } dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion { miriam-gene:157680 a ncit:C16612 . lld:C0265223 a ncit:C7057 . dgn-gda:DGN08341f556be743f8bf3bf1cd3378dc58 sio:SIO_000628 miriam-gene:157680, lld:C0265223; a sio:SIO_001122 . } dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_provenance { dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_assertion dcterms:description "[A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:15211651; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP7017.RAugey4dUTJtO7UktabfxT5ptK0D2pdA3EXKEPQKNx3k0130_publicationInfo { this: dcterms:created "2014-10-02T12:32:01+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" . }