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A. Electropherograms of reverse sequence of GPSM2 c.1684C>T (p.Q562X) in an affected child (top), unaffected parent (middle), and unrelated control (bottom). B. GPSM2 has seven tetratricopeptide repeats (TPR) at the amino-terminus (blue boxes) and four Gαi/o-Loco (GoLoco) repeats at the carboxy-terminus (red circles). The previously reported mutation causes a truncation in a TPR whereas p.Q562X causes a truncation in the second GoLoco motif.
