http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_head http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_provenance http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://identifiers.org/ncbigene/166785 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/C0268583 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/DGN308ee26f7ce570e8f5e87cec353587e8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/166785 http://rdf.disgenet.org/resource/gda/DGN308ee26f7ce570e8f5e87cec353587e8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268583 http://rdf.disgenet.org/resource/gda/DGN308ee26f7ce570e8f5e87cec353587e8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_provenance http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://purl.org/dc/terms/description [Because of their high sequence homology, the missense mutations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, in conjunction with mutagenesis data, provide possible explanations for the pathology of this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17728257 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/dc/terms/created 2015-08-25T14:47:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP977650.RAfP7sTRaS9fKnlmDGth1yMn2K4x4yJsIm1eY7vN6f8EU http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0