http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#head http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#assertion http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#provenance http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#assertion http://rdf.disgenet.org/resource/gda/DGN05d6c8e1da4ec31b6c0be4de827b9c52 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3981 http://rdf.disgenet.org/resource/gda/DGN05d6c8e1da4ec31b6c0be4de827b9c52 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1847827 http://rdf.disgenet.org/resource/gda/DGN05d6c8e1da4ec31b6c0be4de827b9c52 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#provenance http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#assertion http://purl.org/dc/terms/description [Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#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/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22373003 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#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/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/dc/terms/created 2017-10-17T13:14:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP646447.RAAdxQ1B-H8MCGBOgSK1nx8S9gwakX1hT7UOBAOVXsdDc 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