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244,247 These limitations underscore key bottlenecks in drug development rather than undermining the therapeutic relevance of SIRT1
24 The marked discrepancy between our calculated genetic prevalence data for WD (if extrapolated, suggesting approximately 9,000 current cases of WD in the UK) and the considerably lower number of clinically diagnosed WD patients is likely to be at least partially due to reduced penetrance of ATP7B mutations
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