http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_head http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_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/gene-disease-association.ttl#DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79840 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1847827 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7a24e9e9e7ba3e65e982bd7d34952f7a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_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/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22373003 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/dc/terms/created 2014-10-02T12:36:34+02:00 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP460203.RAxhatHmMGidKq7AZG312olKi6OFzGsUSo2Pbk1e1LPcU http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0