http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_head http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_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/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_provenance http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_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/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19328639 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/dc/terms/created 2016-05-13T12:47:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP729018.RAHe3OBD6gtfjoAFdWNGol6PMq_CdYmZ7RGyh6QTldIkM http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0