http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_head http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_provenance http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://identifiers.org/ncbigene/5765 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/C0266573 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/DGN1de7fbecf90794a6f848e5d67f450c5a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5765 http://rdf.disgenet.org/resource/gda/DGN1de7fbecf90794a6f848e5d67f450c5a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266573 http://rdf.disgenet.org/resource/gda/DGN1de7fbecf90794a6f848e5d67f450c5a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_provenance http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://purl.org/dc/terms/description [In addition, in a sporadic case with a balanced chromosomal translocation t(1;8) (p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_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/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17987257 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_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/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/dc/terms/created 2015-08-25T14:44:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP659792.RAhNWA3nWwhYvBpac7K8yY5RjtZb7G6TU4EPIA8h4Fubc 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