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{ ?s ?p ?o <http://purl.org/np/RApaVYypwdLF0FS4-l903xHAlwwuDz8WGFTQSONEP-QWM#provenance>. }
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9140401
title
"
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
"
provenance
.
assertion
SIO_000253
9140401
provenance
.
