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Figure 2: Mutations identifi ed in the patient by deoxyribonucleic acid (DNA) sequencing. (a) Frameshift mutation (p.R217Pfs*8) (b) C to T transition at nucleotide 244 bp; c.244C > T

Figure 2: Mutations identifi ed in the patient by deoxyribonucleic acid (DNA) sequencing. (a) Frameshift mutation (p.R217Pfs*8) (b) C to T transition at nucleotide 244 bp; c.244C > T