http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_head http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_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/C0039685 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/DGN8a3cebe2298a1882a6b81f4bd9e89202 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/182 http://rdf.disgenet.org/resource/gda/DGN8a3cebe2298a1882a6b81f4bd9e89202 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0039685 http://rdf.disgenet.org/resource/gda/DGN8a3cebe2298a1882a6b81f4bd9e89202 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_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/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_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/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12649809 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_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/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/dc/terms/created 2015-08-25T14:39:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc 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