Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_assertion description "[OCA3 was thought to be restricted to black populations, where it was clinically described as rufous or brown albinism, until the recent report of a homozygous TYRP1 mutation in Caucasian patients from a consanguineous Pakistani family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_assertion evidence source_evidence_curated NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_assertion SIO_000772 16704458 NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_assertion wasDerivedFrom uniprot-20150221 NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_assertion wasGeneratedBy ECO_0000218 NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1785.RAkmh_K7IMZqK0oNrziNiHgYjhGl1hPblb_UJ3j25TOXg130_provenance.