http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#head http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#provenance http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://rdf.disgenet.org/resource/gda/DGN49a247517a088984fc560914f30e3d31 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3000 http://rdf.disgenet.org/resource/gda/DGN49a247517a088984fc560914f30e3d31 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931258 http://rdf.disgenet.org/resource/gda/DGN49a247517a088984fc560914f30e3d31 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#provenance http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://purl.org/dc/terms/description [In these Chinese patients, variants in GUCY2D are the most common cause of LCA (16.1% cases), followed by CRB1 (11.5%), RPGRIP1 (8%), RPE65 (5.7%), SPATA7 (4.6%), CEP290 (4.6%), CRX (3.4%), LCA5 (2.3%), MERTK (2.3%), AIPL1 (1.1%), and RDH12 (1.1%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21602930 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/dc/terms/created 2017-10-17T13:13:11+02:00 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP473292.RAV7SadCqyufODO1N4sCEI1CYZOBFzmjawkzt3VofATQo 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