http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_head http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://identifiers.org/ncbigene/2202 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/C1852020 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/DGN3daafec150cafa28e81433fb40ba0bbe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2202 http://rdf.disgenet.org/resource/gda/DGN3daafec150cafa28e81433fb40ba0bbe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1852020 http://rdf.disgenet.org/resource/gda/DGN3daafec150cafa28e81433fb40ba0bbe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_provenance http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://purl.org/dc/terms/description [The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15218514 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/dc/terms/created 2015-08-25T14:41:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396263.RAAtsQjZ123-O7jrTT1NrrbmaXCY3MDhSaba904jOj43M http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0