http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_head http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_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/DGN4ae659989ce906b4b6d8b3c69313be07 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57010 http://rdf.disgenet.org/resource/gda/DGN4ae659989ce906b4b6d8b3c69313be07 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339535 http://rdf.disgenet.org/resource/gda/DGN4ae659989ce906b4b6d8b3c69313be07 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion http://purl.org/dc/terms/description [This report significantly expands on the phenotype associated with calcium binding protein 4 mutations, which has so far been limited to congenital stationary night blindness, and further demonstrates how molecular data often blur the boundaries between what are believed to be clinically distinct retinal disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_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/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20157620 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_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/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/dc/terms/created 2016-05-13T12:47:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY 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