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The negative group, with an initial uncertain FD diagnosis, comprised of n= 7 patients. (p.A143T variant (n=3), p.D313Y variant (n=2), p.P60L variant (n=2) 3 females, 4 males). All index patients with these mutations proved to have no FD by biopsy or showed a non-pathogenic GLA variant by expression analysis (p.D313Y). ................
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