@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:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_head { this: np:hasAssertion dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_assertion; np:hasProvenance dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_provenance; np:hasPublicationInfo dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_publicationInfo; a np:Nanopublication . dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_assertion a np:Assertion . dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_provenance a np:Provenance . dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_publicationInfo a np:PublicationInfo . } dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_assertion { miriam-gene:118460 a ncit:C16612 . lld:C0022716 a ncit:C7057 . dgn-gda:DGNf6b35f6578955e0d03611ca6a05e5efb sio:SIO_000628 miriam-gene:118460, lld:C0022716; a sio:SIO_001121 . } dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_provenance { dgn-np:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_assertion dcterms:description "[During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2).]. 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:1348049; 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:NP359562.RA32PCalo5r4d5NQplC6OQG9MMw2e_mZq6LhyRa2Jszlg130_publicationInfo { this: dcterms:created "2014-10-02T12:35:30+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" . }