http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#head http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#assertion http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#provenance http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#assertion http://rdf.disgenet.org/resource/gda/DGN114b3da763e20bb8248451ac9e9a2820 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/116442 http://rdf.disgenet.org/resource/gda/DGN114b3da763e20bb8248451ac9e9a2820 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0025362 http://rdf.disgenet.org/resource/gda/DGN114b3da763e20bb8248451ac9e9a2820 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#provenance http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#assertion http://purl.org/dc/terms/description [The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#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/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20159109 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#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/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/dc/terms/created 2017-10-17T13:19:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1397947.RAutgrcVmygXb07p81bys8EIzkoWATvm6UHMsSAnzbNsY 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