http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_head
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_assertion
http://identifiers.org/ncbigene/23474
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/C0085584
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#DGNc55795d2940fa2317997db36dcf214fb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/23474
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc55795d2940fa2317997db36dcf214fb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0085584
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc55795d2940fa2317997db36dcf214fb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_assertion
http://purl.org/dc/terms/description
[To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_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#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16183799
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_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#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_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#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/dc/terms/created
2014-10-02T12:41:09+02:00
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP894412.RAQJkR2TL_vny9RCd3FvjbH5dK0ovw3pGcdxArDtzYtdE
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