@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:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_head { this: np:hasAssertion dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_assertion; np:hasProvenance dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_provenance; np:hasPublicationInfo dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_publicationInfo; a np:Nanopublication . dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_assertion a np:Assertion . dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_provenance a np:Provenance . dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_assertion { miriam-gene:5265 a ncit:C16612 . lld:C0149521 a ncit:C7057 . dgn-gda:DGN2cd92e433803702d9b2f7031c9eb78a4 sio:SIO_000628 miriam-gene:5265, lld:C0149521; a sio:SIO_001122 . } dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_provenance { dgn-np:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_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:NP349405.RAMbTYrKYlNWWRYVEbXqj9OuxL6orWU114wVJghkg360Q130_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" . }