@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:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_head { this: np:hasAssertion dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion; np:hasProvenance dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance; np:hasPublicationInfo dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo; a np:Nanopublication . dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion a np:Assertion . dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance a np:Provenance . dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo a np:PublicationInfo . } dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion { miriam-gene:23405 a ncit:C16612 . lld:C2986703 a ncit:C7057 . dgn-gda:DGN45bb835256fec8720b94533e10f14f8b sio:SIO_000628 miriam-gene:23405, lld:C2986703; a sio:SIO_001121 . } dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_provenance { dgn-np:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_assertion dcterms:description "[We propose that mutations affecting the metal binding sites of the DICER1 RNase IIIb domain alter the balance of 3p and 5p microRNAs leading to deregulation of these growth signalling pathways, causing a novel human overgrowth syndrome.]. 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:24676357; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1168113.RAVbGZ6h65ChAN_pJt11GD7SO6VJbVb1m-UPlE1GiGHos130_publicationInfo { this: dcterms:created "2016-05-13T12:50:35+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }