http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#head
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#assertion
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#provenance
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#assertion
http://rdf.disgenet.org/resource/gda/DGN501554ef7b0040b9682e70b75de265bf
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1406
http://rdf.disgenet.org/resource/gda/DGN501554ef7b0040b9682e70b75de265bf
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1301509
http://rdf.disgenet.org/resource/gda/DGN501554ef7b0040b9682e70b75de265bf
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#provenance
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#assertion
http://purl.org/dc/terms/description
[Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram (ERG).Mutations in GUCY2D (ref.3), RPE65 (ref.4) and CRX (ref.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#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/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10615133
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#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/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/dc/terms/created
2017-10-17T13:11:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP243608.RARH5kUR4OxZ65r90zzDoVvmORgfdj6TqwFpMH2EMN1m0
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