http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#head http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#assertion http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#provenance http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#assertion http://rdf.disgenet.org/resource/gda/DGNf69c8b75c2e085c8f9b9a2a052d7466b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10667 http://rdf.disgenet.org/resource/gda/DGNf69c8b75c2e085c8f9b9a2a052d7466b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007795 http://rdf.disgenet.org/resource/gda/DGNf69c8b75c2e085c8f9b9a2a052d7466b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#provenance http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#assertion http://purl.org/dc/terms/description [Clinical features, including postnatal onset, catastrophic epilepsy, lactic acidemia, early lethality and neuroimaging findings of the patients with FARS2 variants, resembled each other closely, and neuropathology was consistent with Alpers syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#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/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22833457 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#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/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/dc/terms/created 2017-10-17T13:18:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1226436.RAAl_-7p-ypZ2d6twEtuOWTnctoGR_O01QBiy6dhduAcc 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