http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_head http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_assertion http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_provenance http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_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/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_provenance http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_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/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_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/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15218514 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_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/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/dc/terms/created 2016-05-13T12:45:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449797.RAnJL5YHdOHKf43Yx2G0J0o08EQ-j2xvQx-yQ0z7cHfyY 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