http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#head http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#assertion http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#provenance http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#assertion http://rdf.disgenet.org/resource/gda/DGNde84b81ea561afbdd1013addb66882be http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/401 http://rdf.disgenet.org/resource/gda/DGNde84b81ea561afbdd1013addb66882be http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1865915 http://rdf.disgenet.org/resource/gda/DGNde84b81ea561afbdd1013addb66882be http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#provenance http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#assertion http://purl.org/dc/terms/description [It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#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/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14597037 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#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/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/dc/terms/created 2017-10-17T13:10:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP86200.RAQiMdYOfmar2ih4woDDWM4Cl_OK_soCBM2Vk829P_Xh4 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