@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:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_head { this: np:hasAssertion dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion; np:hasProvenance dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance; np:hasPublicationInfo dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo; a np:Nanopublication . dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion a np:Assertion . dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance a np:Provenance . dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo a np:PublicationInfo . } dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion { miriam-gene:51124 a ncit:C16612 . lld:C0011847 a ncit:C7057 . dgn-gda:DGN0504129b385e7f41709ae449a6334188 sio:SIO_000628 miriam-gene:51124, lld:C0011847; a sio:SIO_001121 . } dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance { dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion dcterms:description "[Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation.]. 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:22991235; 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:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo { this: dcterms:created "2014-10-02T12:41:10+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" . }