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The mutation analyses could be interpreted as heterozygous, homozygous or compound heterozygous without additional PCR runs since the wild type probes have been incorporated into the test kit for comparison

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GSH GSH Ballatori N, Krance SM, Notenboom S, Shi S, Tieu K, Hammond CL

The GABA signal was then isolated by fitting the spectral differences to the edited GABA peak at 3 ppm via nonlinear least-squares fitting using GannetFit, with creatine (Cr) serving as an internal standard for GABA quantification