Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Hum Genet 135:1399-1409 (2016)
DOI:10.1007/s00439-016-1731-1

Tartaglia M, Aoki Y, Gelb BD

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Am J Med Genet C Semin Med Genet 190:425-439 (2022)
DOI:10.1002/ajmg.c.32012