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Figure 1: Splice site mutation-induced CSS with a high Ri value. G→A mutation (black star) of DES gene at IVS acceptor site resulted in a decline of NSS Ri value (from 12.0 to 4.4 bits). Anewly-formed cryptic splice site (CSS) was shown at one nucleotide downstream of NSS with a Ri value of 5.9 bits. |