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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study, Bi W. Panneerselvam S, et al. Clin Genet. 2021 May 8. doi: 10.1111/cge.13979. Online ahead of print. Clin Genet. 2021. PMID: 33963760
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