http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_head http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_assertion http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_assertion http://identifiers.org/ncbigene/493901 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/C0795864 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#DGN98cce9441d7b5e806a6832ca6dd4aaaf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/493901 http://rdf.disgenet.org/gene-disease-association.ttl#DGN98cce9441d7b5e806a6832ca6dd4aaaf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0795864 http://rdf.disgenet.org/gene-disease-association.ttl#DGN98cce9441d7b5e806a6832ca6dd4aaaf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_assertion http://purl.org/dc/terms/description [We identified dominant frameshift mutations leading to protein truncation in RAI1 in three individuals who have phenotypic features consistent with SMS but do not have 17p11.2 deletions detectable by standard fluorescence in situ hybridization techniques.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_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#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12652298 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_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#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_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#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/dc/terms/created 2014-10-02T12:36:06+02:00 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP413893.RA-qk7Hl-72YbJqt9ht3Qsprq8NFV-1x4Y8LUrKF6zRsA 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