@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:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_head { this: np:hasAssertion dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_assertion; np:hasProvenance dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_provenance; np:hasPublicationInfo dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_publicationInfo; a np:Nanopublication . dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_assertion a np:Assertion . dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_provenance a np:Provenance . dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_publicationInfo a np:PublicationInfo . } dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_assertion { miriam-gene:5265 a ncit:C16612 . lld:C0238288 a ncit:C7057 . dgn-gda:DGNa2c79c496176d043e6b4138f5f08431f sio:SIO_000628 miriam-gene:5265, lld:C0238288; a sio:SIO_001121 . } dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_provenance { dgn-np:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_assertion dcterms:description "[These two patients from the present series together with nine culled from the literature with alpha 1-AT deficiency phenotype and FMD suggest that the chance combination of alpha 1-AT deficiency and FMD may predispose to severe manifestations of FMD.]. 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:10723113; 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:NP571420.RAt0G543JQ5STQH0AYrYeyq0xNDj6M681l0pqOKEGoJGo130_publicationInfo { this: dcterms:created "2014-10-02T12:37:44+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" . }