@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:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_head { this: np:hasAssertion dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion; np:hasProvenance dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance; np:hasPublicationInfo dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo; a np:Nanopublication . dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion a np:Assertion . dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance a np:Provenance . dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo a np:PublicationInfo . } dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion { miriam-gene:5354 a ncit:C16612 . lld:C0028738 a ncit:C7057 . dgn-gda:DGN33d0a8546dcc5d91509917a23b7d768e sio:SIO_000628 miriam-gene:5354, lld:C0028738; a sio:SIO_001121 . } dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance { dgn-np:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion dcterms:description "[The common manifestations of the disease in patients with PLP1 mutations or duplications in this study were nystagmus in early infancy, dysmyelination revealed by magnetic resonance imaging (MRI), and auditory brain response abnormalities.]. 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:19328639; 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:NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo { this: dcterms:created "2016-05-13T12:47:15+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" . }