http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#head http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#assertion http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#provenance http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#assertion http://rdf.disgenet.org/resource/gda/DGNb4e00ffea79f86e7c2bddce5148956f5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4167 http://rdf.disgenet.org/resource/gda/DGNb4e00ffea79f86e7c2bddce5148956f5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339508 http://rdf.disgenet.org/resource/gda/DGNb4e00ffea79f86e7c2bddce5148956f5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#provenance http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#assertion http://purl.org/dc/terms/description [To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on chromosome 6q.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#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/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9924305 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#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/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/dc/terms/created 2017-10-17T13:14:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP671202.RA6U5NztUTBx5d3teAfWKWbiVitL-pXQW--OHI5JOxdvA 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