http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#head http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#assertion http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#provenance http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#assertion http://rdf.disgenet.org/resource/gda/DGNa4c727e7749c4763ade8b2c6b9199fdb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6520 http://rdf.disgenet.org/resource/gda/DGNa4c727e7749c4763ade8b2c6b9199fdb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268225 http://rdf.disgenet.org/resource/gda/DGNa4c727e7749c4763ade8b2c6b9199fdb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#provenance http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#assertion http://purl.org/dc/terms/description [We have recently shown that the molecular defect in all Finnish aspartylglycosaminuria patients examined to date consists of two single base changes in the heavy chain of glycoasparaginase (Mononen, I., Heisterkamp, N., Kaartinen, V., Williams, J. C., Yates, J. R., III, Griffin, P. R., Hood, L. E., and Groffen, J.(1991) Proc.Natl.Acad.Sci U.S.A. 88, 2941-2945).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#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/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1737774 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#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/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/dc/terms/created 2017-10-17T13:16:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP949161.RA-Gpy9QsdnBrQGBVrfvNABBVfcxAPOIkCHaiIT3ahOUo 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