http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_head http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_assertion http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_provenance http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_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/C1832174 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/DGN63b44b81eb22c5337e731c8f9654dde8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2202 http://rdf.disgenet.org/resource/gda/DGN63b44b81eb22c5337e731c8f9654dde8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1832174 http://rdf.disgenet.org/resource/gda/DGN63b44b81eb22c5337e731c8f9654dde8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_provenance http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_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/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_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/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15218514 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_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/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/dc/terms/created 2016-05-13T12:45:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449795.RAEatQC_nqT4TeWmL-Jjm447sN6Is7FAYrbLgROVuV_gs 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