http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#head http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#assertion http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#provenance http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#assertion http://rdf.disgenet.org/resource/gda/DGNc0bd33cfb3524e90370e13c07a3cec1d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2271 http://rdf.disgenet.org/resource/gda/DGNc0bd33cfb3524e90370e13c07a3cec1d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2315100 http://rdf.disgenet.org/resource/gda/DGNc0bd33cfb3524e90370e13c07a3cec1d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#provenance http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#assertion http://purl.org/dc/terms/description [Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#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/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23612258 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#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/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/dc/terms/created 2017-10-17T13:12:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP401010.RA2tV78hyah955IJRF8_soC_svh36RC5h_LWioWo9qvjY 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