@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:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_head { this: np:hasAssertion dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_assertion; np:hasProvenance dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_provenance; np:hasPublicationInfo dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_publicationInfo; a np:Nanopublication . dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_assertion a np:Assertion . dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_provenance a np:Provenance . dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_publicationInfo a np:PublicationInfo . } dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_assertion { miriam-gene:7291 a ncit:C16612 . lld:C0206762 a ncit:C7057 . dgn-gda:DGN675baa9b1626a5baf75b6e68005ee4d6 sio:SIO_000628 miriam-gene:7291, lld:C0206762; a sio:SIO_001121 . } dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_provenance { dgn-np:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_assertion dcterms:description "[Clinical and postmortem findings included craniocerebral asymmetry, craniosynostosis of a lambdoid suture, arhinencephaly, hypertelorism, anomalies of the ethmoidal portion of the cranial base, large anterior fontanelle, low set ears, ventricular septal defect (VSD), dysplastic tricuspid and pulmonic valves, hypoplastic genitalia, bilateral dislocated hips, and other minor limb malformations.]. 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:3631140; 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:NP862927.RAPHVqHqYRO67MZYt93XVv8Om26QrG0M8II4E9avTmwHc130_publicationInfo { this: dcterms:created "2014-10-02T12:40:47+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" . }