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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Mol Genet Metab. 2015 Oct 26;116(4):298–304. doi: 10.1016/j.ymgme.2015.10.010

Table 3.

CTX disease incidence based on known and predicted pathogenic variants.
MODEL EUR FIN AFR AMR EAS SAS
LIT-ExAC 461,358 2,734,062 468,624 148,914 64,712 75,601
p.P384L-NULL + LIT-ExAC 134,970 729,083 263,222 71,677 64,268 36,072