http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#head http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#assertion http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#provenance http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#assertion http://rdf.disgenet.org/resource/gda/DGN4df634e66f03aa24d5ec19a12b1afc96 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57704 http://rdf.disgenet.org/resource/gda/DGN4df634e66f03aa24d5ec19a12b1afc96 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004134 http://rdf.disgenet.org/resource/gda/DGN4df634e66f03aa24d5ec19a12b1afc96 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#provenance http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#assertion http://purl.org/dc/terms/description [By contrast, the GBA2 mutated patients show phenotypes combining typical features of both the SPG46 subtype and the recessive ataxia form, with marked intrafamilial variability thereby expanding the spectrum of clinical entities associated with GBA2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#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/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24337409 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#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/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/dc/terms/created 2017-10-17T13:18:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351902.RAPNESG76QbiveKWlcIwkqybsb2AXlIwkfYWY7cQ5mRfk 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