Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion> ?p ?o ?g. }
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- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion type Assertion NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_head.
- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion description "[As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_provenance.
- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion evidence source_evidence_literature NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_provenance.
- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion SIO_000772 21738390 NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_provenance.
- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion wasDerivedFrom befree-20140225 NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_provenance.
- NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_assertion wasGeneratedBy ECO_0000203 NP778666.RAYgAg6JYK1sinWG_tO21SWM_HTiPIP6OQGYIHSxMv6tc130_provenance.