Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_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." NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_assertion evidence source_evidence_curated NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_assertion SIO_000772 16704458 NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_assertion wasDerivedFrom uniprot-2016 NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_assertion wasGeneratedBy ECO_0000218 NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4529.RAqXMwaZASjw6UIqNqtuFknbPk7ZO53cyxB7yXUWWnbaI130_provenance.