http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_head http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_provenance http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://identifiers.org/ncbigene/5354 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0028738 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN33d0a8546dcc5d91509917a23b7d768e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5354 http://rdf.disgenet.org/resource/gda/DGN33d0a8546dcc5d91509917a23b7d768e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0028738 http://rdf.disgenet.org/resource/gda/DGN33d0a8546dcc5d91509917a23b7d768e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_provenance http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19328639 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/dc/terms/created 2015-08-25T14:43:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631421.RAuQfNuQ9TFPE5ebtqwwfF46kGxyYeEGhEzIFHjlsPQZk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0