@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:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_head { this: np:hasAssertion dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_assertion; np:hasProvenance dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_provenance; np:hasPublicationInfo dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_publicationInfo; a np:Nanopublication . dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_assertion a np:Assertion . dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_provenance a np:Provenance . dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_publicationInfo a np:PublicationInfo . } dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_assertion { miriam-gene:4204 a ncit:C16612 . lld:C0263214 a ncit:C7057 . dgn-gda:DGN7ea990ba65568926bc73019e475802c5 sio:SIO_000628 miriam-gene:4204, lld:C0263214; a sio:SIO_001121 . } dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_provenance { dgn-np:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_assertion dcterms:description "[Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form.]. 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:10854091; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_publicationInfo { this: dcterms:created "2014-10-02T12:41:36+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }