http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_head http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://identifiers.org/ncbigene/182 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/C0266258 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/DGNc0c3fdb18fb19d3c0d5046b2527f0f3c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/182 http://rdf.disgenet.org/resource/gda/DGNc0c3fdb18fb19d3c0d5046b2527f0f3c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266258 http://rdf.disgenet.org/resource/gda/DGNc0c3fdb18fb19d3c0d5046b2527f0f3c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://purl.org/dc/terms/description [We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_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/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12649809 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_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/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/dc/terms/created 2015-08-25T14:39:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M 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