http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_head http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_provenance http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://identifiers.org/ncbigene/79840 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/C1847827 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/DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79840 http://rdf.disgenet.org/resource/gda/DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1847827 http://rdf.disgenet.org/resource/gda/DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_provenance http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_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/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22373003 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/dc/terms/created 2015-08-25T14:47:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP946434.RAAb9Cn7-35nUSvhezU1jjB5AXeKdxmN48xNNi9_OWuWs http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0