TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

There was no detection of the CE in the control samples, and in the patient samples we detected significant biases towards reads containing the risk allele ( P < 0.05, single-tailed binomial test) in six samples, with a seventh sample approaching significance (Fig. 4b ), suggesting that the two ALS- and FTLD-linked variants promote cryptic splicing in vivo.

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