http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_head http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_provenance http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://identifiers.org/ncbigene/54101 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/C0013080 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/DGNd618c1281e30e7ac0a747578174d3877 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54101 http://rdf.disgenet.org/resource/gda/DGNd618c1281e30e7ac0a747578174d3877 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013080 http://rdf.disgenet.org/resource/gda/DGNd618c1281e30e7ac0a747578174d3877 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_provenance http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://purl.org/dc/terms/description [One of these CNVs maps near the RIPK4 gene, and the second includes the ZBTB21 (previously ZNF295) gene, highlighting the potential role of these genes in the pathogenesis of CHD in DS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_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/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23783273 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_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/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/dc/terms/created 2015-08-25T14:46:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP909656.RA3zsQ3gI2txmCJvI2AFe2NFjuBqqjKdbMs5BmIS8NP5I 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