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{ ?s ?p ?o <http://purl.org/np/RAMB8rWBIPMXRcbFML-R7pBcECelORobtzXic5ihIwdXU#provenance>. }
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17701900
title
"
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
"
provenance
.
assertion
SIO_000253
17701900
provenance
.
