http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_head http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_provenance http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://identifiers.org/ncbigene/80184 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/C0431399 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/resource/gda/DGN2ba0769591494d288ebd63f762719ba3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/80184 http://rdf.disgenet.org/resource/gda/DGN2ba0769591494d288ebd63f762719ba3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431399 http://rdf.disgenet.org/resource/gda/DGN2ba0769591494d288ebd63f762719ba3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_provenance http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://purl.org/dc/terms/description [Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17705300 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/dc/terms/created 2015-08-25T14:47:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP948162.RAjcp5-jY8w64LvzLUotOXPGFDzK4uIJDepRlouyTnSDI http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0