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. 2017 Feb 2;18:87. doi: 10.1186/s12859-017-1504-4

Fig. 2.

Fig. 2

An example of combination of mutations. The mutations include a splice site mutation nearby exon 65 (c.9563+1G>A) and a nonsense mutation in exon 66 (c.9568C>T), both of which are common mutation types in TREAT-NMD database. However, the exon-skipping of exon 65 will change the nonsense mutation to a missense mutation