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EC Number Application Commentary Reference
Display the reaction diagram Show all sequences 3.4.22.B32medicine in a patient with a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11), filaggrin expression is almost absent in the skin 754354
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