Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion> ?p ?o ?g. }
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- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion type Assertion NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_head.
- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion description "[Genetic testing of the 2 sisters and their mother (who also had multiple facial lentigines but did not have Cushing syndrome) revealed a novel mutation in the PRKAR1A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_provenance.
- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion evidence source_evidence_literature NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_provenance.
- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion SIO_000772 19833579 NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_provenance.
- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion wasDerivedFrom befree-20140225 NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_provenance.
- NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_assertion wasGeneratedBy ECO_0000203 NP534278.RAH6AkGYDr-r6i7eEMm9_f24XX6rLclMM5v8EZ4LiCAao130_provenance.