@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:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_head { this: np:hasAssertion dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_assertion; np:hasProvenance dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_provenance; np:hasPublicationInfo dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_publicationInfo; a np:Nanopublication . dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_assertion a np:Assertion . dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_provenance a np:Provenance . dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_publicationInfo a np:PublicationInfo . } dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_assertion { miriam-gene:1028 a ncit:C16612 . lld:C0220766 a ncit:C7057 . dgn-gda:DGN0bea53f4769d1f850c5bbd773c868329 sio:SIO_000628 miriam-gene:1028, lld:C0220766; a sio:SIO_001121 . } dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_provenance { dgn-np:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_assertion dcterms:description "[Interestingly, a recent study discovered that loss of function or gain of function of CDKN1C also causes clinically opposite disorders, BWS and IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome, respectively.]. 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:23719190; 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:NP394640.RA4kw0_ScbYNeah31OjBwPPjQMfEinkcgYVdGUTptscvY130_publicationInfo { this: dcterms:created "2014-10-02T12:35:55+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" . }