Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion> ?p ?o ?g. }
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- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion type Assertion NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_head.
- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion description "[Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding centrosomal protein CEP290.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_provenance.
- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion evidence source_evidence_literature NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_provenance.
- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion SIO_000772 26301811 NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_provenance.
- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion wasDerivedFrom befree-2016 NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_provenance.
- NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_assertion wasGeneratedBy ECO_0000203 NP1293122.RAHdjsbd50wFBc_Ayw0LzpX3ZCP6RictP0z4t_ev0jOZ0130_provenance.