http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#head http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#assertion http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#provenance http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#assertion http://rdf.disgenet.org/resource/gda/DGN32dce168961612babc88e6bbd119afee http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7084 http://rdf.disgenet.org/resource/gda/DGN32dce168961612babc88e6bbd119afee http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGN32dce168961612babc88e6bbd119afee http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#provenance http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#assertion http://purl.org/dc/terms/description [Here we identify two mutations in TK2, histidine 90 to asparagine and isoleucine 181 to asparagine, in four individuals who developed devastating myopathy and depletion of muscular mitochondrial DNA in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#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/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11687801 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#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/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/dc/terms/created 2017-10-17T13:16:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1025329.RA4SbU_AEnXf_Kf3pi0sAt6BVyZn6myfhQQ490j65Qpvc 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