Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion> ?p ?o ?g. }
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- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion type Assertion NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_head.
- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion description "[The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_provenance.
- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion evidence source_evidence_literature NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_provenance.
- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion SIO_000772 16384941 NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_provenance.
- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion wasDerivedFrom befree-2016 NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_provenance.
- NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_assertion wasGeneratedBy ECO_0000203 NP528884.RACpUIJP0gojjfr-BBT44dt9jNlvh-fyYmEARS2qGPKBA130_provenance.