http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#head http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#provenance http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://rdf.disgenet.org/resource/gda/DGN1d82dc92a57b7a30916a4de490091847 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/89910 http://rdf.disgenet.org/resource/gda/DGN1d82dc92a57b7a30916a4de490091847 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432072 http://rdf.disgenet.org/resource/gda/DGN1d82dc92a57b7a30916a4de490091847 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#provenance http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://purl.org/dc/terms/description [Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24615390 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/dc/terms/created 2017-10-17T13:19:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1390174.RAv-wLCULJoWTU2zavxOUOz5SZAqxU6QhfxXUkyI5UB0k 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