http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_head http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://identifiers.org/ncbigene/1716 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/C0085605 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/resource/gda/DGNe2c17f419287e06b107e093df14514e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1716 http://rdf.disgenet.org/resource/gda/DGNe2c17f419287e06b107e093df14514e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085605 http://rdf.disgenet.org/resource/gda/DGNe2c17f419287e06b107e093df14514e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_provenance http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://purl.org/dc/terms/description [The phenotype was distinctive for each gene, with hepatic failure and encephalopathy associated with mutations in the deoxyguanosine kinase gene and isolated devastating myopathy as the sole manifestation of thymidine kinase 2 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110944 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/dc/terms/created 2016-05-13T12:44:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360278.RAl5p3XA1HgTsnXs8Pa1tE-BiHD6Qc7GjJSo0kGDB5f68 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0