http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_head http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_provenance http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://identifiers.org/ncbigene/2736 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0013338 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN41a16b19146c8cdbd5dbb818794a07dc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2736 http://rdf.disgenet.org/resource/gda/DGN41a16b19146c8cdbd5dbb818794a07dc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013338 http://rdf.disgenet.org/resource/gda/DGN41a16b19146c8cdbd5dbb818794a07dc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_provenance http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://purl.org/dc/terms/description [We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20685856 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/dc/terms/created 2016-05-13T12:48:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP830759.RADMah4K8dOWJxTo-XLOVF2tO7I7-vR6wAnE2hxDDmvzI http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0