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Genetic analysis shows co-segregation of the KIF5A splice site variants and the apparent missense variant c.3019A>G with ALS. (A) c.2993-1G>A (B) c.3020+2T>C. (C) c.3019A>G. Obligate carriers of the respective variant are abbreviated as ‘oc’. All currently asymptomatic mutation carriers are 45 years old or younger. m = mutant allele; PD = Parkinson’s disease; w = wild-type allele.
