http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#head http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#assertion http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#provenance http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#assertion http://rdf.disgenet.org/resource/gda/DGNa690d76af948cffcad695b0109140011 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6638 http://rdf.disgenet.org/resource/gda/DGNa690d76af948cffcad695b0109140011 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162635 http://rdf.disgenet.org/resource/gda/DGNa690d76af948cffcad695b0109140011 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#provenance http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#assertion http://purl.org/dc/terms/description [The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#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/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9931342 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#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/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/dc/terms/created 2017-10-17T13:16:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966681.RA9MaxD4w9n2x45lukZFWoB--k2QIzwws8zNz54gz9cUg 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