http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_head http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_assertion http://identifiers.org/ncbigene/326 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/C0266273 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#DGN76d7c864b1941b4de0b322dbe3327d32 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/326 http://rdf.disgenet.org/gene-disease-association.ttl#DGN76d7c864b1941b4de0b322dbe3327d32 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266273 http://rdf.disgenet.org/gene-disease-association.ttl#DGN76d7c864b1941b4de0b322dbe3327d32 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_assertion http://purl.org/dc/terms/description [We describe two unrelated boys with autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome (APECED) who, in addition to manifesting the most common symptoms (chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease), developed progressive muscular weakness in both the proximal and distal limbs, sensory loss and absent tendon reflexes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_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#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18461357 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_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#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_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#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/dc/terms/created 2014-10-02T12:39:40+02:00 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP759957.RAr2HNQZohvrvf5aCOXzKITK5X8WTg-FsQCXtPYEttmkY 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