http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#head http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#assertion http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#provenance http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#assertion http://rdf.disgenet.org/resource/gda/DGN0639708f8214e3b83b544cf01a288a86 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1716 http://rdf.disgenet.org/resource/gda/DGN0639708f8214e3b83b544cf01a288a86 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085584 http://rdf.disgenet.org/resource/gda/DGN0639708f8214e3b83b544cf01a288a86 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#provenance http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#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/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#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/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110944 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#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/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/dc/terms/created 2017-10-17T13:12:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP286991.RAabnEkSpLJReXP3FN0XRUC1gRSlfL3z-65WtnuEq14ts 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