http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#head http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#assertion http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#provenance http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#assertion http://rdf.disgenet.org/resource/gda/DGN0d1fd2b7a244756f87402797eb48e806 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9997 http://rdf.disgenet.org/resource/gda/DGN0d1fd2b7a244756f87402797eb48e806 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0878544 http://rdf.disgenet.org/resource/gda/DGN0d1fd2b7a244756f87402797eb48e806 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#provenance http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#assertion http://purl.org/dc/terms/description [However, atypical clinical features were present in some patients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy) seen in association with TRMU mutations and no cardiomyopathy with founder SCO2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#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/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25058219 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#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/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/dc/terms/created 2017-10-17T13:17:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1203056.RA_lAFp_Cd_POsyo9iPFKzBsOS1pbAgz-CdRPdSmDh0OM 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