AVXS apparently tries to convince you that exactly 2 copies of the SMN2 geneIS Type 1 SMA. While the number of copies of SMN2 has been shown to correlate with severity, it is by no means an absolute and we have ample peer reviewed evidence to support our case. We will show you multiple cases of patients who have only one copy of SMN2 who were deemed to have a substantially milder form of the disease (Type II and III).
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