http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#head http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#assertion http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#provenance http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#assertion http://rdf.disgenet.org/resource/gda/DGN638814dff26e169e02477c8447546372 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/85378 http://rdf.disgenet.org/resource/gda/DGN638814dff26e169e02477c8447546372 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265202 http://rdf.disgenet.org/resource/gda/DGN638814dff26e169e02477c8447546372 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#provenance http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#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/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#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/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25344692 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#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/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/dc/terms/created 2017-10-17T13:19:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388820.RAlygpzDDEecaccUqXuj39WAfeL8cj6e6EZWiIk_ikYXg 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