http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#head http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#assertion http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#provenance http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#assertion http://rdf.disgenet.org/resource/gda/DGN1f14b05f35892a5fe47c3a5224f51088 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3000 http://rdf.disgenet.org/resource/gda/DGN1f14b05f35892a5fe47c3a5224f51088 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931258 http://rdf.disgenet.org/resource/gda/DGN1f14b05f35892a5fe47c3a5224f51088 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#provenance http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#assertion http://purl.org/dc/terms/description [Twenty-one unrelated index cases with a clinical diagnosis of LCA were screened for mutations in the coding sequence of RetGC1, RPE65 and AIPL1 gene with single strand conformation polymorphism analysis followed by direct sequencing and restriction enzyme digestion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#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/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14611946 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#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/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/dc/terms/created 2017-10-17T13:13:11+02:00 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP473328.RAvzgIZYXDNpiEk5BzDgpQup0VuBosg8-E3HwcjNifI_A 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