Matches in Nanopublications for { ?s ?p ?o <http://purl.org/np/RABerFuRvr2br_LLTHz_Zu20r288yjROXGJa27KATziAM#provenance>. }
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- 25130867 title "Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome." provenance.
- assertion SIO_000253 25130867 provenance.