@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:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_head { this: np:hasAssertion dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_assertion; np:hasProvenance dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_provenance; np:hasPublicationInfo dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_publicationInfo; a np:Nanopublication . dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_assertion a np:Assertion . dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_provenance a np:Provenance . dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_publicationInfo a np:PublicationInfo . } dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_assertion { miriam-gene:5354 a ncit:C16612 . lld:C0205711 a ncit:C7057 . dgn-gda:DGNb89ed7218725e04df427e8f69d25b107 sio:SIO_000628 miriam-gene:5354, lld:C0205711; a sio:SIO_001122 . } dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_provenance { dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_assertion dcterms:description "[Patients with the classical form (type I) and the more severely affected, connatal variant of Pelizaeus-Merzbacher disease (type II) would be predicted to display mutation at the PLP locus.]. 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:2773936; 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 . } dgn-np:NP8209.RAKHec4h8wAMD5RgA2Nvms3DQmtPRpK4f11nLSs5UnRa8130_publicationInfo { this: dcterms:created "2016-05-13T12:41:53+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" . }