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{ ?s ?p ?o <http://purl.org/np/RAdUqxONz3O4vGT64HiatYrzJ2k0r3paVCHfs0pJvrz8k#provenance>. }
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25712130
title
"
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
"
provenance
.
assertion
SIO_000253
25712130
provenance
.