@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:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_head { this: np:hasAssertion dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_assertion; np:hasProvenance dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_provenance; np:hasPublicationInfo dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_publicationInfo; a np:Nanopublication . dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_assertion a np:Assertion . dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_provenance a np:Provenance . dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_publicationInfo a np:PublicationInfo . } dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_assertion { miriam-gene:6690 a ncit:C16612 . lld:C0149521 a ncit:C7057 . dgn-gda:DGNb8bdc1c7e9f56b92e374e4922310d60c sio:SIO_000628 miriam-gene:6690, lld:C0149521; a sio:SIO_001122 . } dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_provenance { dgn-np:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_assertion dcterms:description "[124 patients with non-alcoholic chronic pancreatitis (with PRSS1 or SPINK1 mutations or idiopathic pancreatitis) and 64 healthy controls were investigated for the AAT mutations PiS and PiZ, and the PiM determining variants R101H, V213A, E376D.]. 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:11916201; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP349401.RA55rqp2GesAbbrlO7oT5Q9-MC3QpLz7gPd7816v5y9Bw130_publicationInfo { this: dcterms:created "2016-05-13T12:44:23+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }