Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion> ?p ?o ?g. }
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- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion type Assertion NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_head.
- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion description "[The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_provenance.
- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion evidence source_evidence_literature NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_provenance.
- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion SIO_000772 8595413 NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_provenance.
- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion wasDerivedFrom befree-20150227 NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_provenance.
- NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_assertion wasGeneratedBy ECO_0000203 NP674080.RAMNqspsAn6PhvZOAvX6lQDbD6Hdeqv2ZTA3wFY4PWsI0130_provenance.