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(A) SPTBN4 gene model. The location of the affected 26th exon is indicated in red. (B) Illustration of the 16-bp deletion. Figure shows wild type and mutant exon. (C) Alignment of the mutant (Mt) and wild type (Wt) SPTBN4 protein sequence. The mutation induces 30 novel amino acids and a premature stop codon.
