http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#head http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#assertion http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#provenance http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#assertion http://rdf.disgenet.org/resource/gda/DGN832f4d116286984218ae8f5ed10e8f53 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10300 http://rdf.disgenet.org/resource/gda/DGN832f4d116286984218ae8f5ed10e8f53 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1955869 http://rdf.disgenet.org/resource/gda/DGN832f4d116286984218ae8f5ed10e8f53 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#provenance http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#assertion http://purl.org/dc/terms/description [Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#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/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25521378 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#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/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/dc/terms/created 2017-10-17T13:17:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1212119.RAHgAdEgegYioia6QR5PJJMDF87F807rx5kHIkSuo3eLo 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