Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion> ?p ?o ?g. }
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- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion type Assertion NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_head.
- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion wasGeneratedBy ECO_0000203 NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_provenance.
- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion wasDerivedFrom befree-2016 NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_provenance.
- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion SIO_000772 8045710 NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_provenance.
- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion evidence source_evidence_literature NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_provenance.
- NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_assertion description "[Patients from two families, one with a mutation in codon 167 (Gly167Asp) leading to macular degeneration and another with a mutation in codon 210 (Pro210Ser) leading to retinitis pigmentosa, were studied with clinical examinations and measurements of rod and cone sensitivities and dark adaptation, electroretinography, and rhodopsin levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1330675.RADOWbBFK-fiT1YnRQDFgqABDwmCO-G8T5E2EY0aqmno0130_provenance.