Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion> ?p ?o ?g. }
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- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion type Assertion NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_head.
- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion description "[A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_provenance.
- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion evidence source_evidence_literature NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_provenance.
- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion SIO_000772 23496908 NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_provenance.
- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion wasDerivedFrom befree-2016 NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_provenance.
- NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_assertion wasGeneratedBy ECO_0000203 NP1060690.RAnrwDk7P77KsHl9YMXUiqO9I3iIrZ7ifP9YB1pFgIKi8130_provenance.