http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_head
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://identifiers.org/ncbigene/57010
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/C0339535
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/DGN4f9b5471827e24d4dc9aaa72e7179dd7
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/57010
http://rdf.disgenet.org/resource/gda/DGN4f9b5471827e24d4dc9aaa72e7179dd7
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0339535
http://rdf.disgenet.org/resource/gda/DGN4f9b5471827e24d4dc9aaa72e7179dd7
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://purl.org/dc/terms/description
[Calcium binding protein 4 (CABP4), specifically located in photoreceptor synaptic terminals, has been associated with congenital stationary night blindness based on this clinical diagnosis being made for three individuals from two Swiss families with CABP4 mutations; however, the few reported cases limit phenotype-genotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23099293
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/dc/terms/created
2016-05-13T12:49:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1023911.RARVNSgQey17v4HMIvvqdTBUEgRGKLYeEgqZVw9MV0H90
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