@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:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_head { this: np:hasAssertion dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion; np:hasProvenance dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance; np:hasPublicationInfo dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo; a np:Nanopublication . dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion a np:Assertion . dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance a np:Provenance . dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo a np:PublicationInfo . } dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion { miriam-gene:3388 a ncit:C16612 . lld:C0175693 a ncit:C7057 . dgn-gda:DGN47e1546b2cd1697ed8b36b7207fa44a6 sio:SIO_000628 miriam-gene:3388, lld:C0175693; a sio:SIO_001121 . } dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_provenance { dgn-np:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_assertion dcterms:description "[This report supports the hypothesis that the trans-duplication of the maternal copy of ICR1 alone is sufficient for the clinical manifestation of SRS and demonstrates the usefulness of combining aCGH with karyotyping and FISH for detecting cryptic genomic imbalances.]. 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:23225375; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP474186.RAh5CjdZfSALTYULvw6DbnHZI4S9p9UoRXXpwt7JFkFaY130_publicationInfo { this: dcterms:created "2015-08-25T14:42:19+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }