@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:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_head { this: np:hasAssertion dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_assertion; np:hasProvenance dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_provenance; np:hasPublicationInfo dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_publicationInfo; a np:Nanopublication . dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_assertion a np:Assertion . dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_provenance a np:Provenance . dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_publicationInfo a np:PublicationInfo . } dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_assertion { miriam-gene:5265 a ncit:C16612 . lld:C0024117 a ncit:C7057 . dgn-gda:DGNc601dc49f4546f527ec93dc8fdd7c8e4 sio:SIO_000628 miriam-gene:5265, lld:C0024117; a sio:SIO_001122 . } dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_provenance { dgn-np:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_assertion dcterms:description "[We conclude that alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.]. 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:10542979; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP52004.RAQJTW7e7zlBcl_1GDjgdVLsGNAcoAAzKbhbVF4Ojo8xM130_publicationInfo { this: dcterms:created "2014-10-02T12:32:24+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" . }