Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion> ?p ?o ?g. }
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- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion type Assertion NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_head.
- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion description "[The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_provenance.
- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion evidence source_evidence_literature NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_provenance.
- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion SIO_000772 17389517 NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_provenance.
- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion wasDerivedFrom befree-20140225 NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_provenance.
- NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_assertion wasGeneratedBy ECO_0000203 NP486489.RA3MygWLasP5MO25vG5NcUQHDNUIkQ-zAw9b73FCgHmBg130_provenance.