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In contrast to mice lacking the closely related pathway genes MTHFD1L and AMT , those deleted for MTHFD2 do not show a neural tube defect but rather normal body development with a failure of the liver tissue to support hematopoiesis (Di Pietro et al., 2002)
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In a series of studies, de Groot and colleagues (de Groot et al., Reference de Groot, Smeets, Kaldewaij, Duijndam and Semin2012, Reference de Groot, Semin and Smeets2014, Reference de Groot, van Houtum, Gortemaker, Ye, Chen, Zhou and Smeets2018, Reference de Groot, Kirk and Gottfried2020, Reference de Groot, Kirk and Gottfried2021