http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_head http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_provenance http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://identifiers.org/ncbigene/9496 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/C0009081 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/DGNeb9f02ad2c205290442891ca4cea6137 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9496 http://rdf.disgenet.org/resource/gda/DGNeb9f02ad2c205290442891ca4cea6137 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009081 http://rdf.disgenet.org/resource/gda/DGNeb9f02ad2c205290442891ca4cea6137 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_provenance http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://purl.org/dc/terms/description [Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_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/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22892537 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_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/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/dc/terms/created 2016-05-13T12:49:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1005149.RA19qUPWDry7azg7JUGDm6I8tnoQbycfMfHCX687n0h8o 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