http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_head http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_provenance http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://identifiers.org/ncbigene/51557 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/C0023003 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/resource/gda/DGN1096044f62d623695a06dcfd93ef022c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51557 http://rdf.disgenet.org/resource/gda/DGN1096044f62d623695a06dcfd93ef022c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023003 http://rdf.disgenet.org/resource/gda/DGN1096044f62d623695a06dcfd93ef022c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_provenance http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://purl.org/dc/terms/description [A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8530105 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/dc/terms/created 2015-08-25T14:46:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP906673.RA3EU23PrdWSd0QgoUaSkHiQ4kdDdlbctQKn0B6E6PoeE http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0