http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_head http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_assertion http://identifiers.org/ncbigene/6281 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/C0271093 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#DGN156454ae57baf81449facbb05b7d15d0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6281 http://rdf.disgenet.org/gene-disease-association.ttl#DGN156454ae57baf81449facbb05b7d15d0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271093 http://rdf.disgenet.org/gene-disease-association.ttl#DGN156454ae57baf81449facbb05b7d15d0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_assertion http://purl.org/dc/terms/description [Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_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#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8014971 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_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#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_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#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/dc/terms/created 2014-10-02T12:36:51+02:00 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP487535.RAru1Mn-7dlcidpJZR5NtGhm12BXv-u6lVRBQT2PcibFg 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