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Transcriptomic analysis of iSPNs at the pre-symptomatic stage showed de-regulation of metabolic pathways, including upregulation of Gsto2 , encoding glutathione S-transferase omega-2 (GSTO2)

Here we adapt this complementation assay to our recently described VE mapping framework and use it to generate comprehensive functional maps of CBS missense variation with low or high levels of vitamin B 6

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doi: 10.1016/j.freeradbiomed.2016.05.027 113 ZhaoYWangAZouYSuNLoscalzoJYangY

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