Fig. 3 | European Journal of Human Genetics

Fig. 3

From: Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Fig. 3

Bar diagram showing the distribution of 4A161S and 4A161L alleles in the European controls and FSHD1 patients (non-mosaic and mosaic patients). Only unique control and FSHD1 alleles are included. After binning of 4A161S and 4A161L FSHD1 alleles into 1-7U and 8-10U bins, we observed a significant paucity (p = 8.18e-05) of 8–10 D4Z4 repeat units on a 4A161L allele. On the right site of the graph results are shown for binning to individual D4Z4 repeat array sizes

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