http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_head http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_provenance http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://identifiers.org/ncbigene/657 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/C0266617 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/DGNbb9a04c84d8358640e1a5e5e7dc1dd66 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/657 http://rdf.disgenet.org/resource/gda/DGNbb9a04c84d8358640e1a5e5e7dc1dd66 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266617 http://rdf.disgenet.org/resource/gda/DGNbb9a04c84d8358640e1a5e5e7dc1dd66 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_provenance http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://purl.org/dc/terms/description [We reason that, even in the absence of juvenile polyposis syndrome, sequencing and copy number analysis of BMPR1A should be considered in patients with (atrioventricular) septal defects, especially when associated with facial dysmorphism and anomalous growth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_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/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22067610 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_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/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/dc/terms/created 2016-05-13T12:48:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP937143.RA4l7YBjTO8Ws5FFJvWFuSVkjskI78bab64tWMFoAy8Bk 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