@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:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_head { this: np:hasAssertion dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_assertion; np:hasProvenance dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_provenance; np:hasPublicationInfo dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_publicationInfo; a np:Nanopublication . dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_assertion a np:Assertion . dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_provenance a np:Provenance . dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_assertion { miriam-gene:4167 a ncit:C16612 . lld:C0242383 a ncit:C7057 . dgn-gda:DGN8a2956b19ce59af1c1cf271ba8fce50b sio:SIO_000628 miriam-gene:4167, lld:C0242383; a sio:SIO_001121 . } dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_provenance { dgn-np:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_assertion dcterms:description "[To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on chromosome 6q.]. 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:9924305; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1413715.RAAmkabCTn3bHsyOBIl9Ly_FQRsPky6m9chgagCebWbX0130_publicationInfo { this: dcterms:created "2016-05-13T12:52:27+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" . }