http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#head
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#provenance
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://rdf.disgenet.org/resource/gda/DGN60640207ed777c97e26f6b941567932c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5428
http://rdf.disgenet.org/resource/gda/DGN60640207ed777c97e26f6b941567932c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0014038
http://rdf.disgenet.org/resource/gda/DGN60640207ed777c97e26f6b941567932c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#provenance
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://purl.org/dc/terms/description
[POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21357833
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/dc/terms/created
2017-10-17T13:15:31+02:00
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP837103.RA0TAAsnTlCEGCE3Ev1rGtYWUhQWMsPSwcGxXkLddiPgg
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0