Identification of novel small molecule compounds with readthrough activity in Nagashima-type palmoplantar keratosis
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Background: Nagashima-type palmoplantar keratosis (NPPK), the most common form of hereditary palmoplantar keratodermas in East Asian populations, is caused by biallelic loss-of-function mutations in SERPINB7 such as p.Arg266Ter (... ...
