http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#head http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#provenance http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://rdf.disgenet.org/resource/gda/DGNc9bc44203e612edd3d450e5fa986561e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9901 http://rdf.disgenet.org/resource/gda/DGNc9bc44203e612edd3d450e5fa986561e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGNc9bc44203e612edd3d450e5fa986561e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#provenance http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://purl.org/dc/terms/description [Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21082655 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/CTD_human http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/CTD_human http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/dc/terms/created 2017-10-17T13:17:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1199812.RAyLNv_sgTmwMHNf4pA8UMUrfuUAwz3JtsqivrcdnWzTc http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0