http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#head http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#assertion http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#provenance http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#assertion http://rdf.disgenet.org/resource/gda/DGNbdc24bf2e4557476bf14e486936b7e5b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3081 http://rdf.disgenet.org/resource/gda/DGNbdc24bf2e4557476bf14e486936b7e5b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0002066 http://rdf.disgenet.org/resource/gda/DGNbdc24bf2e4557476bf14e486936b7e5b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#provenance http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#assertion http://purl.org/dc/terms/description [We show that HGO maps to the same location described for AKU, illustrate that HGO harbours missense mutations that cosegregate with the disease, and provide biochemical evidence that at least one of these missense mutations is a loss-of-function mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#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/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8782815 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#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/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/dc/terms/created 2017-10-17T13:13:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP486403.RAyKEaeMm6RU-aqz5sgX6aXOqTWvPVX-1WwI1UXPOiP2g 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