http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_head http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_provenance http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://identifiers.org/ncbigene/26503 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/C1096902 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/DGN6787c48892ddd62173b8d62b107e14c4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26503 http://rdf.disgenet.org/resource/gda/DGN6787c48892ddd62173b8d62b107e14c4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1096902 http://rdf.disgenet.org/resource/gda/DGN6787c48892ddd62173b8d62b107e14c4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_provenance http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://purl.org/dc/terms/description [Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16170568 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/dc/terms/created 2015-08-25T14:46:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP883571.RA86fwwZMjL6Cz95IY4jCpdT-4CcGJJbSV1hFKF_8vlt8 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0