http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_head http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_provenance http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://identifiers.org/ncbigene/10020 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/C1096903 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/DGNaec9616571520ff23af7762a740ecea8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10020 http://rdf.disgenet.org/resource/gda/DGNaec9616571520ff23af7762a740ecea8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1096903 http://rdf.disgenet.org/resource/gda/DGNaec9616571520ff23af7762a740ecea8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_provenance http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://purl.org/dc/terms/description [Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_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/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11916006 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_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/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/dc/terms/created 2016-05-13T12:44:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP349376.RAZGEUt5CKR8ZoI79Eb6Ov5S18oaC8T2oUBoiX8NsqXGs 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