http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_head http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://identifiers.org/ncbigene/414 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/C0018818 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/gene-disease-association.ttl#DGNcbbe859027f6bb59580b1801659c6d35 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/414 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcbbe859027f6bb59580b1801659c6d35 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018818 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcbbe859027f6bb59580b1801659c6d35 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://purl.org/dc/terms/description [We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7573129 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/dc/terms/created 2014-10-02T12:39:34+02:00 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0