http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_head http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_assertion http://identifiers.org/ncbigene/79823 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/C1261287 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#DGN46c2f7f9670fa2088376cacd57860dcb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79823 http://rdf.disgenet.org/gene-disease-association.ttl#DGN46c2f7f9670fa2088376cacd57860dcb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1261287 http://rdf.disgenet.org/gene-disease-association.ttl#DGN46c2f7f9670fa2088376cacd57860dcb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_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#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_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#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7562969 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_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#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_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#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/dc/terms/created 2014-10-02T12:41:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP922900.RAkw1ceZDwi-BCH_Gglyn7khJXFdtBSVngLhjlDwEd3I8 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