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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Robinson KR, Singh SK, Walkup RB, Fawwal DV, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Chung WK, Cutler DJ, Epstein MP, Fashina A, Gasser B, Gowans LJJ, Hecht JT, Moreno Uribe L, Scott DA, Shaw GM, Thomas MA, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Murray JC, Cornell RA, Leslie-Clarkson EJ. Robinson KR, et al. Among authors: singh sk. medRxiv [Preprint]. 2025 Jan 17:2025.01.17.25320742. doi: 10.1101/2025.01.17.25320742. medRxiv. 2025. PMID: 39867391 Free PMC article. Preprint.
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