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Matches in Nanopublications for
{ ?s ?p ?o <http://purl.org/np/RAjt4h_mtm7856FoOCEvEBGdxAHC8dL127fWOmT80mSmE#provenance>. }
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8486760
title
"
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing
"
provenance
.
assertion
SIO_000253
8486760
provenance
.
