http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#head http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#provenance http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://rdf.disgenet.org/resource/gda/DGN2dd1603a2b1bf3dcbfa0e5590688d01e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3614 http://rdf.disgenet.org/resource/gda/DGN2dd1603a2b1bf3dcbfa0e5590688d01e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0035334 http://rdf.disgenet.org/resource/gda/DGN2dd1603a2b1bf3dcbfa0e5590688d01e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#provenance http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://purl.org/dc/terms/description [The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#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/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16038673 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/GAD http://purl.org/pav/importedOn 2017-02-21 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/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/dc/terms/created 2017-10-17T13:13:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP594363.RAtsKfqmbhZ8mbt4etZHyxfdv_cysmHziaDrQ_5spuXtQ 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