Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion> ?p ?o ?g. }
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- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion type Assertion NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_head.
- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion wasGeneratedBy ECO_0000203 NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_provenance.
- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion wasDerivedFrom befree-2016 NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_provenance.
- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion SIO_000772 19339306 NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_provenance.
- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion evidence source_evidence_literature NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_provenance.
- NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_assertion description "[Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP729976.RAXPJ4bpfflPJW3v19d6MyyHtvUzRRBu_V9ZTVA0yo3vg130_provenance.