@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_head { this: np:hasAssertion dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_assertion; np:hasProvenance dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_provenance; np:hasPublicationInfo dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_publicationInfo; a np:Nanopublication . dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_assertion a np:Assertion . dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_provenance a np:Provenance . dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_publicationInfo a np:PublicationInfo . } dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_assertion { miriam-gene:21 a ncit:C16612 . lld:C0034069 a ncit:C7057 . dgn-gda:DGNd84c61206150453c5c6b520dbfec89e6 sio:SIO_000628 miriam-gene:21, lld:C0034069; a sio:SIO_001121 . } dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_provenance { dgn-np:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_assertion dc:description "[The determination of an ABCA3 mutation in one case of severe pulmonary fibrosis with significant dystrophy of the brain and the identification of four highly similar archival cases and eight others with partial pathological findings supports the designation of an independent disorder, here referred to as the cerebropulmonary dysgenetic 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:18603241; 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:NP370177.RADIN46QZRIBIrLYxLs8QBCHigTG0h3JYCo0EWk67p8tM130_publicationInfo { this: dc:created "2014-10-02T12:35:37+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }