http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_head http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion http://identifiers.org/ncbigene/2710 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/C0001623 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#DGN8a37a7fdd9f2591dd0860b516e1be66c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2710 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8a37a7fdd9f2591dd0860b516e1be66c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001623 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8a37a7fdd9f2591dd0860b516e1be66c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion http://purl.org/dc/terms/description [We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_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#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18762570 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_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#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_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#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/dc/terms/created 2014-10-02T12:39:48+02:00 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP774393.RAR_pp2EpMMgbbtPLEUhn7QND3A47ioCENcwbCeDEUgQI 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