http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#head http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#assertion http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#provenance http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#assertion http://rdf.disgenet.org/resource/gda/DGNffbc3476640f46b3b83ff699b98c6544 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10733 http://rdf.disgenet.org/resource/gda/DGNffbc3476640f46b3b83ff699b98c6544 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3887505 http://rdf.disgenet.org/resource/gda/DGNffbc3476640f46b3b83ff699b98c6544 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#provenance http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#assertion http://purl.org/dc/terms/description [Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#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/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25344692 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#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/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/dc/terms/created 2017-10-17T13:18:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1228341.RAiXo38Qu0yOBoaumkuWGiaLq-k9w0eq8qxUGjvk-ePUw 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