Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1413220.RATsqTPPPUVBPndTL9Q07L2UBAirSr-dHrCfeVLQl8zKg#assertion> ?p ?o ?g. }
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- assertion description "[This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23946133 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.