@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP370358.RAPALXipEbW4UW9mucizuu41qHhV9Wod1c8hoaRvhytRs> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .
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  this: np:hasAssertion dgn-np:NP370358.RAPALXipEbW4UW9mucizuu41qHhV9Wod1c8hoaRvhytRs130_assertion ;
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dgn-np:NP370358.RAPALXipEbW4UW9mucizuu41qHhV9Wod1c8hoaRvhytRs130_assertion {
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dgn-np:NP370358.RAPALXipEbW4UW9mucizuu41qHhV9Wod1c8hoaRvhytRs130_provenance {
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