http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_head http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_assertion http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_provenance http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_assertion http://identifiers.org/ncbigene/7403 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/gene-disease-association.ttl#DGN08bf2cdf0444a62e5afdfab2f9872aba http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7403 http://rdf.disgenet.org/gene-disease-association.ttl#DGN08bf2cdf0444a62e5afdfab2f9872aba http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009081 http://rdf.disgenet.org/gene-disease-association.ttl#DGN08bf2cdf0444a62e5afdfab2f9872aba http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_provenance http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_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/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_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#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22892537 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_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#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_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#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/dc/terms/created 2014-10-02T12:41:12+02:00 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP898392.RA9hB4yJhY73-A1V1L3UR2w46mcp5C0grA-Ap5i8G7Ves 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