Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion> ?p ?o ?g. }
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- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion type Assertion NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_head.
- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion description "[A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_provenance.
- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion evidence source_evidence_literature NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_provenance.
- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion SIO_000772 17653047 NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_provenance.
- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion wasDerivedFrom befree-20140225 NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_provenance.
- NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_assertion wasGeneratedBy ECO_0000203 NP199590.RA87X1pj77-7RBIBHQoUNDzy1KZKVD5dWhdPBs4CA7GFI130_provenance.