http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_head http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_provenance http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://identifiers.org/ncbigene/23493 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/C0010068 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/DGNd1b1415a4d229f4b52ea9144b10e1d63 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23493 http://rdf.disgenet.org/resource/gda/DGNd1b1415a4d229f4b52ea9144b10e1d63 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010068 http://rdf.disgenet.org/resource/gda/DGNd1b1415a4d229f4b52ea9144b10e1d63 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_provenance http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://purl.org/dc/terms/description [To clarify the role of HEY2 in human CHD and AGS, we screened by direct sequencing 23 children with CHD and 38 patients diagnosed with AGS, which lack mutations in the JAG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_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/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15389319 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_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/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/dc/terms/created 2016-05-13T12:45:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP461549.RAHK0zIs-F63sTbtScFOHh3uzJi2HWSSHcxyYAacUaieY 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