http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#head
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#assertion
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#provenance
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#assertion
http://rdf.disgenet.org/resource/gda/DGNbc419db6f997eecf54c68ca8718d29bb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6121
http://rdf.disgenet.org/resource/gda/DGNbc419db6f997eecf54c68ca8718d29bb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0028738
http://rdf.disgenet.org/resource/gda/DGNbc419db6f997eecf54c68ca8718d29bb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#provenance
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#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/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#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/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10615133
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#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/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/dc/terms/created
2017-10-17T13:16:00+02:00
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP912251.RA4rUnm-nowXjMh6SmvFetnfgTxPDIOrT8SqGHFTFIcFA
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