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Representative haplotype sequences from each SMN1 and SMN2 haplogroup as well as SMN2Δ7–8
IGV snapshot showing the haplotype sequences used in the phylogenetic analysis in Figure 2. Sequences of the gene region plus upstream and downstream regions were included. SMN2Δ7–8 has the 6.3 kb deletion of exons 7–8. S1-9d has a 3.6 kb deletion upstream of SMN1. The SNP g.27134T>G, commonly used in silent carrier screening, is marked with a red star symbol between S1-8 and S1-9.
