http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_head http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_assertion http://identifiers.org/ncbigene/10743 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/C0026827 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#DGN721fd8cc17112b2cdde0d1647e1fff2d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10743 http://rdf.disgenet.org/gene-disease-association.ttl#DGN721fd8cc17112b2cdde0d1647e1fff2d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026827 http://rdf.disgenet.org/gene-disease-association.ttl#DGN721fd8cc17112b2cdde0d1647e1fff2d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_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#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_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#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16845274 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_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#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_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#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/dc/terms/created 2014-10-02T12:35:53+02:00 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP392482.RA16gJ-XaGiMjcnDGFIQ0Qd0_IKtRusg_IzoioGfbbfdM 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