@DonnellanP, are you planning to correct the case report now that you know it is incorrect? I see that you are still citing the case report as evidence and reporting the incorrect interpretation on Bluesky. From May 19:You are right. I was wrong. I apologize for the confusion. I got the SNP orientation wrong initially It is C to T. I posted the NIH link. tHe clinical benefit remains unchanged.
Yes, T/T for rs5522 means you have two copies of the variant coding for the valine amino acid that drives MR overactivity. Please read the case report.
Edit: Your website that you linked also still gives incorrect information, saying T leads to valine.
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