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The new mutation c.54-5811_164 + 2186del8108ins182. Boxes containing lined bars represent the 182-bp inserted sequences of intron 3. The intronic sequence is represented by 5′-a-b-c-d-3′. After the inversion, the inserted sequence is 5′-d-c-b-a-3′. Boxes containing black bars represent L1 element sequences.
