http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#head http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#assertion http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#provenance http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#assertion http://rdf.disgenet.org/resource/gda/DGN443a71e489b0e0acbed8b28bcc22406f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10594 http://rdf.disgenet.org/resource/gda/DGN443a71e489b0e0acbed8b28bcc22406f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1838702 http://rdf.disgenet.org/resource/gda/DGN443a71e489b0e0acbed8b28bcc22406f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#provenance http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#assertion http://purl.org/dc/terms/description [Genes coding for components of the U4/U6.U5 tri small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome stand out, because mutations in four genes cause RP, i.e., RP9 (PAP1), RP11 (PRPF31), RP13 (PRPF8), and RP18 (PRPF3), while there is no degeneration outside the retina despite global expression of these genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#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/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18334927 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#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/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/dc/terms/created 2017-10-17T13:17:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1222766.RAfsEcCmo9oiMIUhVcQe8Bc06yvieusw0rfvX3WDK4W1U 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