http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_head http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_assertion http://identifiers.org/ncbigene/259266 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/C0431350 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#DGNa95a3bf50b0ceef21ed71ca797d24dd0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/259266 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa95a3bf50b0ceef21ed71ca797d24dd0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431350 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa95a3bf50b0ceef21ed71ca797d24dd0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_assertion http://purl.org/dc/terms/description [Here we show that the most common cause of MCPH is homozygous mutation of ASPM, the human ortholog of the Drosophila melanogaster abnormal spindle gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_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#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12355089 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_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#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_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#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/dc/terms/created 2014-10-02T12:34:19+02:00 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP248479.RA1pjWvLBuO-pZBa2bVKlYO6fst6jZ9eG8JvVxyKe8cK8 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