@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:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_head { this: np:hasAssertion dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_assertion; np:hasProvenance dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_provenance; np:hasPublicationInfo dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_publicationInfo; a np:Nanopublication . dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_assertion a np:Assertion . dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_provenance a np:Provenance . dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_publicationInfo a np:PublicationInfo . } dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_assertion { miriam-gene:2332 a ncit:C16612 . lld:C0032897 a ncit:C7057 . dgn-gda:DGN6ad9aab11381a2ef9b9df5dce6f29a4f sio:SIO_000628 miriam-gene:2332, lld:C0032897; a sio:SIO_001121 . } dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_provenance { dgn-np:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_assertion dcterms:description "[Mutational analysis of MECP2 was performed in mentally retarded female patients who were negative for FMR1 CGG repeat expansion, in male and female patients with clinical features suggestive of either Angelman or Prader-Willi syndrome without methylation defects on chromosome 15q11-q13.]. 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:14560307; 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:NP765387.RAfiL2sCeOA5Aw3_gD51giD-jZ-Rz1_Z52oQl_jKlceOY130_publicationInfo { this: dcterms:created "2014-10-02T12:39:43+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" . }