Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion> ?p ?o ?g. }
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- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion type Assertion NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_head.
- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_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." NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_provenance.
- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion evidence source_evidence_literature NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_provenance.
- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion SIO_000772 16632484 NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_provenance.
- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion wasDerivedFrom befree-20150227 NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_provenance.
- NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_assertion wasGeneratedBy ECO_0000203 NP948120.RAxCNz0I1849--xikBXXWsxoAdpMl-_EIa9c8SBAPdB9o130_provenance.