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doi: 10.1042/BSR20211634 20 ZhangALuoRLiJMiaoRAnHYanXet al

Our initial attempt to investigate the contribution of the TSS pathway and CBS regulation to the cysteine pool failed when cells were cultured under supraphysiological cystine concentrations

To date, eight different variants, including three frameshift mutations (37.5%), two missense mutations (25.0%), one nonsense mutation (12.5%), one copy number mutation (12.5%), and one six-base in-frame deletion (12.5%), have been reported in China in 10 patients from nine unrelated families (Table 1)

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