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Electropherogram of Sanger analysis of Patient M1 demonstrating: (a) missense variation at the position 3164 of exon 16 of the BLM gene (c.3164G>C:p.Cys1055Ser) and (b) missense variation at the position 3625 of exon 19 of the BLM gene (c.3625T>A:p.Ser1209Thr)
