http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_head http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://identifiers.org/ncbigene/1376 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0017921 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd139d2c10d0e720a2f001ae1e9ee25e1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1376 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd139d2c10d0e720a2f001ae1e9ee25e1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0017921 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd139d2c10d0e720a2f001ae1e9ee25e1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://purl.org/dc/terms/description [The most recent ones are enzymatic replacement therapy (ERT) in glycogenosis type II in both the infantile, juvenile and the adult forms, targeted manipulation of diet that has been tried in glycogenosis type II (Pompe disease), type V (McArdle's disease), and in Carnitine palmitoyl transferase 2 (CPT 2) deficiency, a rare disorder of fatty acid oxidation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20356791 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/dc/terms/created 2014-10-02T12:41:18+02:00 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP908542.RABt9uJxwWP9IoDgMNmJcb4Lw5C3shBYkhSK9qgsz-Onk http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0