@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_head { this: np:hasAssertion dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_assertion; np:hasProvenance dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_provenance; np:hasPublicationInfo dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_publicationInfo; a np:Nanopublication . dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_assertion a np:Assertion . dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_provenance a np:Provenance . dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_publicationInfo a np:PublicationInfo . } dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_assertion { miriam-gene:3897 a ncit:C16612 . lld:C0795953 a ncit:C7057 . dgn-gda:DGN70234a086c98360fef3f766e01b826f6 sio:SIO_000628 miriam-gene:3897, lld:C0795953; a sio:SIO_001121 . } dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_provenance { dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_assertion dcterms:description "[Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (HSAS), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:9643285; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP530047.RANx6mzS6XpfWujOf5c-Flo66vamZgOVqdtsC6qNl5xjI130_publicationInfo { this: dcterms:created "2015-08-25T14:42:53+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }