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pro vyhledávání: '"John Pappas"'
Autor:
Wenmiao Zhu, Haley Streff, Saadet Mercimek-Andrews, John Pappas, Vann Chau, Fan Xia, Seema R. Lalani, Rachel Rabin, Christine M. Eng, Yaping Yang, Weimin Bi, Sugi Panneerselvam, Ddd Study, Lisa Emrick, Karen J. Low, Rui Xiao, Claudia Soler-Alfonso, Jill A. Rosenfeld, Julia Wang, Anne E. Anderson, Hongzheng Dai
Publikováno v:
Clinical geneticsREFERENCES. 100(2)
PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain-of-function (GoF) variants in the