Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1374357.RAC96MQ3enJaLVa35sgaPhKewq72PCFiZyiIwODj0rBAI#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21257638 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The gene coding for centrosomal protein 290 (CEP290), a large multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis (LCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.