@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:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_head { this: np:hasAssertion dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion; np:hasProvenance dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance; np:hasPublicationInfo dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo; a np:Nanopublication . dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion a np:Assertion . dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance a np:Provenance . dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo a np:PublicationInfo . } dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion { miriam-gene:4204 a ncit:C16612 . lld:C0035372 a ncit:C7057 . dgn-gda:DGNdae8258c68e59e5a972bc54c3764242c sio:SIO_000628 miriam-gene:4204, lld:C0035372; a sio:SIO_001121 . } dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_provenance { dgn-np:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_assertion dcterms:description "[The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease.]. 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:14649546; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP422917.RAJMPBxr-5rStfTHjZdL7SKxd0ot7zBNCrddTyRR9P9xI130_publicationInfo { this: dcterms:created "2016-05-13T12:44:57+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }