http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_head http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_assertion http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_provenance http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_assertion http://identifiers.org/ncbigene/808 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/resource/gda/DGNfd6153731653807344e589046cb52434 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/808 http://rdf.disgenet.org/resource/gda/DGNfd6153731653807344e589046cb52434 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265216 http://rdf.disgenet.org/resource/gda/DGNfd6153731653807344e589046cb52434 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_provenance http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_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/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_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/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7562969 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_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/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/dc/terms/created 2015-08-25T14:40:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP279504.RABiyA-X5WdLbE_PKhTKJfdzKDXJFlIE7c3y8pOntFo7w 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