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MTHFR gene mutations are variations in the DNA sequence of the MTHFR gene that can affect the activity of the MTHFR enzyme

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the National Key Basic Research Program of China 2018YFA0507000 (M.-W.W.) and 2019YFA0508800 (Y.Z.), Shanghai Municipal Science and Technology Major Project 2019SHZDZX02 (H.E.X.)

Epidemiology Gamma-glutamyl transpeptidase deficiency is a very rare disease, which has been reported in seven patients in five families worldwide [3337]

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