http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_head http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://identifiers.org/ncbigene/2717 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/C0002986 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/DGNea74e2d610e8f0bf50b46024d8235907 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2717 http://rdf.disgenet.org/resource/gda/DGNea74e2d610e8f0bf50b46024d8235907 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0002986 http://rdf.disgenet.org/resource/gda/DGNea74e2d610e8f0bf50b46024d8235907 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://purl.org/dc/terms/description [A large cohort of patients with Fabry disease is being studied to determine the natural history of the disease and how this relates to the specific mutation involved and the amount of residual alpha-galactosidase A activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_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/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11758674 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_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/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/dc/terms/created 2016-05-13T12:44:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM 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