Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion> ?p ?o ?g. }
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- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion type Assertion NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_head.
- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion description "[Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_provenance.
- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion evidence source_evidence_literature NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_provenance.
- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion SIO_000772 18334959 NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_provenance.
- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion wasDerivedFrom befree-2016 NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_provenance.
- NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_assertion wasGeneratedBy ECO_0000203 NP660065.RAhruhjkl295clAA5m8EWNYJUKPlI03atrOIjiZW2GX2U130_provenance.