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Page 98                                           Khajuria et al. J Transl Genet Genom 2020;4:91-103  I  http://dx.doi.org/10.20517/jtgg.2020.06


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               Figure 2. A: diagrammatic representation of MECP2 sequence variants identified in this study (novel variants are underlined); and B:
               diagrammatic representation of MECP2 deletions found in the present study

               test; P = 0.000). The ability to walk was severely deteriorated in patients with early truncating variants as
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               compared to patients with missense variants and large deletions (Pearson χ  test; P = 0.011). The loss of
               purposeful use of hands was observed to be significantly associated with missense variants compared to
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               truncating variants (Pearson χ  test; P = 0.032). However, generally, no significant difference was observed
               with the type of sequence variation and the age of onset of symptoms; exceptions were observed in patients
               with p.R270X and p.R168X with earlier onset of symptoms [Table 4].
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