http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#head http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#assertion http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#provenance http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#assertion http://rdf.disgenet.org/resource/gda/DGN18dbbb03c60d1c04550e4e34c22efc79 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23746 http://rdf.disgenet.org/resource/gda/DGN18dbbb03c60d1c04550e4e34c22efc79 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026010 http://rdf.disgenet.org/resource/gda/DGN18dbbb03c60d1c04550e4e34c22efc79 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#provenance http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#assertion http://purl.org/dc/terms/description [Our patients with the RDH12 mutation had the distinct macular coloboma sign, and the patient with the AIPL1 mutation developed microphthalmia and severe widespread retinal pigment epithelial atrophy, in contrast to previously reported cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#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/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25148430 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#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/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/dc/terms/created 2017-10-17T13:18:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1269566.RApWK1sNVEaGoxwfk5AFq8a7TZpBpkZLRopIU-pQFZnoY 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