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{ ?s ?p ?o <http://purl.org/np/RAUsLp2DkAzZRMGR0XCnDpsTcD17G753y_qeu5IgEE5XQ#provenance>. }
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26183434
title
"
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
"
provenance
.
assertion
SIO_000253
26183434
provenance
.
