Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion> ?p ?o ?g. }
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- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion type Assertion NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_head.
- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion description "[We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_provenance.
- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion evidence source_evidence_literature NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_provenance.
- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion SIO_000772 18179881 NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_provenance.
- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion wasDerivedFrom befree-20140225 NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_provenance.
- NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_assertion wasGeneratedBy ECO_0000203 NP918101.RAhc3lWMKkBTRDgKkZsoyl2QjnylUFU9nBe8M9S5f1iT8130_provenance.