Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.

The associations with non-synonymous and the NSD20 variants in the dichotomous group remained nominally significant ( P = 3.8 × 10 −2 and P = 4.4 × 10 −2 , respectively) even after the removal of the R377W and R507H variants previously identified in GeM-HD GWAS (Supplementary Table 3a ).

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FAN1 showed a significant signal in the dichotomous non-synonymous analysis after multiple testing correction ( P = 2.3 × 10 −4 ) and approached significance for NSD20 variants in both analysis groups (Table 2 ).

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