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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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Tissue volume fractions determined from the segmented images were used to correct metabolite concentrations for partial volume effects and relaxation attenuation in each voxel [53]

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