http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#head http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#assertion http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#provenance http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#assertion http://rdf.disgenet.org/resource/gda/DGN5444358d5b64e0fe016fb103b017c0f5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55636 http://rdf.disgenet.org/resource/gda/DGN5444358d5b64e0fe016fb103b017c0f5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162809 http://rdf.disgenet.org/resource/gda/DGN5444358d5b64e0fe016fb103b017c0f5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#provenance http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#assertion http://purl.org/dc/terms/description [Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#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/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25472840 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#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/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/dc/terms/created 2017-10-17T13:18:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335626.RAVruVMDsSta-I_GEY4QSvSS_Gh2CedHh-0sUe8ZUDXiA 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