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We would like to apologise for two corrections that were not included in Table 2. Please see points 1 and 2 for the corrected information:

  1. 1

    The codon change for patients 3 and 5 with T5162C homozygote mutation should be corrected as CTG-CCG instead of GCT-GCC

  2. 2

    In the Mutation at the level column for patient 4, the splice site mutation refers to T5453A mutation and I54M protein level mutation refers to C1912G mutation where they are both indicated in the same row.