http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_head http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://identifiers.org/ncbigene/6683 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/C0037773 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/DGN95a97221eaf64103a48b5b42be27caf5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6683 http://rdf.disgenet.org/resource/gda/DGN95a97221eaf64103a48b5b42be27caf5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0037773 http://rdf.disgenet.org/resource/gda/DGN95a97221eaf64103a48b5b42be27caf5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://purl.org/dc/terms/description [Mutations of human spastin, an AAA (ATPases associated with diverse cellular activity) family protein, cause an autosomal dominant form of hereditary spastic paraplegia, which is characterized by weakness, spasticity and loss of the vibratory sense in the lower limbs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_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/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19619244 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_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/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/dc/terms/created 2016-05-13T12:47:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP752339.RAfDRmeAfoYGHAzABn3-fbrLSf1B0gZzGWXuK676_83mQ 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