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Source Data for Figure 1[LSA-2025-03549_SdataF1.pdf] ARTHS mutations occur along the entire length of the KAT6A protein within all defined protein domains (WHD, PHD, HAT), as well as the less defined large acidic region (aa 780 to 1,438) and the carboxy-terminal methionine- and serine-rich regions (Kennedy et al, 2019)
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Additionally, evidence indicates that the expression of GCL subunits varies depending on tissue type and physiological context, thereby affecting the cells ability to synthesize GSH under conditions of stress [40]
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