@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:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_head { this: np:hasAssertion dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_assertion; np:hasProvenance dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_provenance; np:hasPublicationInfo dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_publicationInfo; a np:Nanopublication . dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_assertion a np:Assertion . dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_provenance a np:Provenance . dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_publicationInfo a np:PublicationInfo . } dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_assertion { miriam-gene:1287 a ncit:C16612 . lld:C1567742 a ncit:C7057 . dgn-gda:DGNae109ac51ae2b4c62819e1e3e0100102 sio:SIO_000628 miriam-gene:1287, lld:C1567742; a sio:SIO_001121 . } dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_provenance { dgn-np:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_assertion dcterms:description "[Our preliminary results demonstrate that the quantity of mRNA expression level of the mutant COL4A5 gene was correlated with the phenotypic severity of females with XLAS, and this could not be explained by X-inactivation pattern in peripheral blood leukocytes.]. 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:17463160; 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:NP606784.RAV-jte5KTx9XJXa9mAbLkioNhTbKh0V7WSA41xGwOUY8130_publicationInfo { this: dcterms:created "2016-05-13T12:46:20+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" . }