http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#head http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#assertion http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#provenance http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#assertion http://rdf.disgenet.org/resource/gda/DGNf6635f7a88585630898e0dbb67642bb8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23405 http://rdf.disgenet.org/resource/gda/DGNf6635f7a88585630898e0dbb67642bb8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2986703 http://rdf.disgenet.org/resource/gda/DGNf6635f7a88585630898e0dbb67642bb8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#provenance http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#assertion http://purl.org/dc/terms/description [We propose that mutations affecting the metal binding sites of the DICER1 RNase IIIb domain alter the balance of 3p and 5p microRNAs leading to deregulation of these growth signalling pathways, causing a novel human overgrowth syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#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/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24676357 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#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/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/dc/terms/created 2017-10-17T13:18:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1259202.RAO55YyHTTGXT_YHFGTaqvc0EgDrCNVaLZMHmS1aHNwL0 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