http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_head http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_provenance http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://identifiers.org/ncbigene/2006 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/C0024796 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/DGN7bbc85ea1ab3525aa318bddeb1d04c6a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2006 http://rdf.disgenet.org/resource/gda/DGN7bbc85ea1ab3525aa318bddeb1d04c6a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024796 http://rdf.disgenet.org/resource/gda/DGN7bbc85ea1ab3525aa318bddeb1d04c6a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_provenance http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://purl.org/dc/terms/description [The relation between Marfan syndrome and fibrillin mutations and that between supravalvular aortic stenosis and William syndromes and elastin mutations are reviewed, as is the presence of microdeletions in 22q11 in DiGeorge syndrome, velocardiofacial syndrome, and nonsyndromic patients with conotruncal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_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/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7911041 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_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/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/dc/terms/created 2016-05-13T12:51:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1326240.RAEJfRWmZK1574IIol5z_zTJzr5vumGx0F77Q1jN-RZ5g 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