Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion> ?p ?o ?g. }
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- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion type Assertion NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_head.
- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion description "[In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_provenance.
- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion evidence source_evidence_literature NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_provenance.
- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion SIO_000772 16632484 NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_provenance.
- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion wasDerivedFrom befree-2016 NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_provenance.
- NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_assertion wasGeneratedBy ECO_0000203 NP546350.RALVe1VSn6Zi3G0Q2goUCAmAPIXeuSsSAQe2UkVhJvGrE130_provenance.