http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_head http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion http://identifiers.org/ncbigene/351 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/C0036572 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#DGN2252843c25f2ddaf1f7e267e4f161d6e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/351 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2252843c25f2ddaf1f7e267e4f161d6e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036572 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2252843c25f2ddaf1f7e267e4f161d6e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion http://purl.org/dc/terms/description [The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_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#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18187157 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_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#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_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#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/dc/terms/created 2014-10-02T12:35:39+02:00 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI 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