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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

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Motif enrichment analysis in KO cells showed enrichment of motifs for transcription factors involved in TGF- signaling activation, such as JUN ( AP-1 ) and SMAD Family Member 3 ( SMAD3 ) 53 , as well as Forkhead Box P3 ( FOXP3 ), which is crucial for TGF--mediated regulatory T cell differentiation and immune tolerance 54

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