http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_head http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_assertion http://identifiers.org/ncbigene/1748 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/C0265333 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#DGN926b6f5665e4a315c4cf225c008e08f6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1748 http://rdf.disgenet.org/gene-disease-association.ttl#DGN926b6f5665e4a315c4cf225c008e08f6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265333 http://rdf.disgenet.org/gene-disease-association.ttl#DGN926b6f5665e4a315c4cf225c008e08f6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_assertion http://purl.org/dc/terms/description [To determine if AIHHT and TDO represent variable expression of a common DLX3 gene mutation, allelic mutations of the DLX3 gene, or mutations in DLX7 (the linked paralogue to DLX3 on chromosome 17), we have performed mutational analysis and sequencing studies of the DLX3 and DLX7 genes in three individuals (two affected and one unaffected) from a family with AIHHT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_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#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10466415 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_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#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_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#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/dc/terms/created 2014-10-02T12:41:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP905644.RAkntSo84ywKVwSg5PrCzQhHmaLy73R8g4eh-EXGdD4LE 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