http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#head http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#assertion http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#provenance http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#assertion http://rdf.disgenet.org/resource/gda/DGN85fb472a718dd0cb911caeffdc361f27 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2717 http://rdf.disgenet.org/resource/gda/DGN85fb472a718dd0cb911caeffdc361f27 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0002986 http://rdf.disgenet.org/resource/gda/DGN85fb472a718dd0cb911caeffdc361f27 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#provenance http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#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/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#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/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11758674 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#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/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/dc/terms/created 2017-10-17T13:13:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP443946.RAgn_6mV2tym98mUk1gmw3yZvwNIQIOMxFbSjZEVYkWVs 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