http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_head http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_provenance http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://identifiers.org/ncbigene/7278 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/C0796004 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/DGN532b979242a9e0225ab2407d0529a202 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7278 http://rdf.disgenet.org/resource/gda/DGN532b979242a9e0225ab2407d0529a202 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0796004 http://rdf.disgenet.org/resource/gda/DGN532b979242a9e0225ab2407d0529a202 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_provenance http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://purl.org/dc/terms/description [However, the present data offer the possibility of testing the involvement of the TUBA2 gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9465305 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/dc/terms/created 2016-05-13T12:52:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388708.RAVJLNObkkA-RXf6QvwPfwb2_GUqIM-Fw88ZcNPovM9ho http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0