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Interestingly, silencing Erbin in keratinocytes disrupted cell differentiation, which recapitulates the phenotypes seen in SPPK patients carrying DSG1 mutations (Harmon et al., 2013)

Note that the senior author is Wright, the principal investigator of the Harding laboratory

We calculated variant frequencies in our cohort, compared them with gnomAD, and applied a binomial test (Python) to assess statistical significance (p-value T p.(Gln361*)), linked to decreased C1-INH production

Most adverse events (AEs) were mild or moderate, and the most common AEs were nausea, diarrhea, decreased appetite, and vomiting, occurring primarily during dose escalation