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10.1021/acscentsci.7b00589 94 ShiZ.PuyoC
N -(5-(((5-( tert -butyl)oxazol-2-yl)methyl)thio)thiazol-2-yl)-1-(2-(2-(2-((2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindolin-4-yl)thio)ethoxy)ethoxy)acetyl)piperidine-4-carboxamide ( 19, GT-02865 )
Conclusion: We reported a case of SPG35 caused by compound heterozygous mutations in the FA2H
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