Functional analysis of a de novo ACTB mutation in a patient with atypical baraitser-winter syndrome

Jennifer J. Johnston, Kuo Kuang Wen, Kim Keppler-Noreuil, Melissa Mckane, Jessica L. Maiers, Alexander Greiner, Julie C. Sapp, Kris A. Demali, Peter A. Rubenstein, Leslie G. Biesecker

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