http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#head http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#provenance http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://rdf.disgenet.org/resource/gda/DGNf4e5d3787ac91ff60293bd759b279148 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/190 http://rdf.disgenet.org/resource/gda/DGNf4e5d3787ac91ff60293bd759b279148 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026850 http://rdf.disgenet.org/resource/gda/DGNf4e5d3787ac91ff60293bd759b279148 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#provenance http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#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/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18762570 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/dc/terms/created 2017-10-17T13:10:22+02:00 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP28709.RAsiFHLz9c84P0WI1sGRijnFylJbQGlTZ75f8oGdQNNfw http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0