http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_head http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://identifiers.org/ncbigene/2055 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/C1838570 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/DGN28b5658935fa9a9be7faf9b2dcf5bbf6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2055 http://rdf.disgenet.org/resource/gda/DGN28b5658935fa9a9be7faf9b2dcf5bbf6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1838570 http://rdf.disgenet.org/resource/gda/DGN28b5658935fa9a9be7faf9b2dcf5bbf6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_provenance http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://purl.org/dc/terms/description [Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21990111 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://purl.org/pav/importedOn 2016-01-25 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/dc/terms/created 2016-05-13T12:41:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP6809.RAMV6imFYiZbcy1PMggPvrP4KO-sDm3rva8mCr6vEFrsk http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0