http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_head
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_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/C0678236
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/resource/gda/DGNa92ee27745c801cb1ff7abb2953bdfe9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1376
http://rdf.disgenet.org/resource/gda/DGNa92ee27745c801cb1ff7abb2953bdfe9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0678236
http://rdf.disgenet.org/resource/gda/DGNa92ee27745c801cb1ff7abb2953bdfe9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_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/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20356791
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/dc/terms/created
2015-08-25T14:40:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP324631.RAesjaFiQh4yCIaBV2Epm3Nr8C30qrTzxXfDu4tSGv9tA
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0