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Mutations identified in the patients. A: Patient 1: a heterozygous point mutation, c.311A>G (p.Asp104Gly), was identified in exon 2 of SLC25A4. B: Patient 2: a heterozygous point mutation, c.1435G>A (p.Glu479Lys), was identified in exon 2 of C10ORF2.
