Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_assertion wasGeneratedBy ECO_0000218 NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_assertion wasDerivedFrom uniprot-2016 NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_assertion SIO_000772 9662395 NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_assertion evidence source_evidence_curated NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.
- NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_assertion description "[Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9808.RA8PVU73SEBl0t71zQwLywiC92SnEc65TeTqTU0_pN-7k130_provenance.