http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_head http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_assertion http://identifiers.org/ncbigene/1797 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/C0013336 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#DGNfccd4121b277db8f2b03a4f63f2668da http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1797 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfccd4121b277db8f2b03a4f63f2668da http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfccd4121b277db8f2b03a4f63f2668da http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_assertion http://purl.org/dc/terms/description [Phenotypic comparison between patients with deletions and patients with RAI1 mutations show that 21 of 30 SMS features are the result of haploinsufficiency of RAI1, whereas cardiac anomalies, speech and motor delay, hypotonia, short stature, and hearing loss are associated with 17p11.2 deletions rather than RAI1 mutations (P<.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_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#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16845274 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_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#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_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#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/dc/terms/created 2014-10-02T12:38:21+02:00 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP631427.RA5nDvFuRZAu3ZQDFu03rRrvSVK2uaDHfYylnWSDv75jk 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