http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_head http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_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/C0017924 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#DGN43651279ad3f0398d392b25d52164abc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1376 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43651279ad3f0398d392b25d52164abc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0017924 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43651279ad3f0398d392b25d52164abc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_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#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_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#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20356791 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_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#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_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#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/dc/terms/created 2014-10-02T12:40:09+02:00 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP796954.RAUKmRrFEOax2r4cWOrQtN4sNewwCwOYBe8vDEZl99FnE 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