http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_head http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://identifiers.org/ncbigene/801 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/C0265216 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/gene-disease-association.ttl#DGN931a88d69df3ba142c0ba9835d5243a6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/801 http://rdf.disgenet.org/gene-disease-association.ttl#DGN931a88d69df3ba142c0ba9835d5243a6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265216 http://rdf.disgenet.org/gene-disease-association.ttl#DGN931a88d69df3ba142c0ba9835d5243a6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://purl.org/dc/terms/description [The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7562969 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/dc/terms/created 2014-10-02T12:40:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP830177.RANfOJGP7j3PrY8jf4G534WqNkR0pCwXAt2z6umJuJLvM http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0