@prefix dcterms: . @prefix ns1: . @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-gda: . @prefix dgn-void: . ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_head { this: np:hasAssertion ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_assertion; np:hasProvenance ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_provenance; np:hasPublicationInfo ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_publicationInfo; a np:Nanopublication . ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_assertion a np:Assertion . ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_provenance a np:Provenance . ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_publicationInfo a np:PublicationInfo . } ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_assertion { miriam-gene:2121 a ncit:C16612 . lld:C0457013 a ncit:C7057 . dgn-gda:DGN2eb7ff05fd21782fa69364f25aa85b3a sio:SIO_000628 miriam-gene:2121, lld:C0457013; a sio:SIO_001122 . } ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_provenance { ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_assertion dcterms:description "[Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.]. 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:10700184; prov:wasDerivedFrom dgn-void:uniprot-2016; 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-2016 pav:importedOn "2016-01-25"^^xsd:date . } ns1:NP671.RACsRkDtIpvytDIm9quK_JqCUWUORAY4ZTE2AoShVLNuI130_publicationInfo { this: dcterms:created "2016-05-13T12:41:50+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }