Matches in Nanopublications for { ?s ?p "[Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_assertion description "[Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266021.RA6cblCB0y05-SN2ErwdWkiRKMpY5dOt9UKughnxhs5KY130_provenance.