http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_head http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://identifiers.org/ncbigene/551 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/C0011849 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#DGNeb5643eaeecfe41f76c806a08f54a62f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/551 http://rdf.disgenet.org/gene-disease-association.ttl#DGNeb5643eaeecfe41f76c806a08f54a62f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011849 http://rdf.disgenet.org/gene-disease-association.ttl#DGNeb5643eaeecfe41f76c806a08f54a62f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://purl.org/dc/terms/description [ Both mutations result in reduced AVP prohormone processing and secretion probably due to retention in the ER. This supports, at least partly, the hypothesis that the mutations lead to the production of a mutant hormone precursor that fails to fold and/or dimerize properly and, as a consequence, is retained by the ER protein quality control machinery. Perinuclear accumulation of the V67A prohormone outside the ER indicates that additional mechanisms could be involved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_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#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14678298 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_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#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 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#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/dc/terms/created 2014-10-02T12:32:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP47921.RAC8j4U3chTNKEpYZLzlk9yt86M0nX0DApaiXtIujrqeI 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