http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_head http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://identifiers.org/ncbigene/95 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/C0026827 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/gene-disease-association.ttl#DGN83acdfbf93f40c9b908dba5014b0242b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/95 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83acdfbf93f40c9b908dba5014b0242b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026827 http://rdf.disgenet.org/gene-disease-association.ttl#DGN83acdfbf93f40c9b908dba5014b0242b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://purl.org/dc/terms/description [The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16465618 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/dc/terms/created 2014-10-02T12:35:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP356328.RAKX65BwIwNMNEXgkvhEgN8_LPmIzvrkyeo5wmlkUg8d4 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0