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. Author manuscript; available in PMC: 2023 Mar 16.
Published in final edited form as: Neuron. 2022 Jan 18;110(6):992–1008.e11. doi: 10.1016/j.neuron.2021.12.019

Figure 5. Rare variant analysis demonstrates the association of RefMap genes with ALS severity.

Figure 5.

(A) Survival curves showing the number of rare LoF variants within RefMap ALS genes carried by an ALS patient is inversely correlated with the age of disease onset. Plot shows age of onset for ALS patients grouped by the number of rare LoF variants affecting one or more RefMap ALS genes. P-value by the logrank test. (B-E) Correlation analysis of the expression of ADAMTSL1 (B), BNC2 (C), KANK1 (D), and VAV2 (E) in iPSC-derived MNs obtained from ALS patients (n=55) versus the age of ALS onset. Gene expression level (x-axis) is plotted against the age of onset (y-axis). Lines (blue) of best fit are shown with 95% confidence interval (CI, grey area). The BH method was used for multiple testing correction. See also Figure S3B and Table S6.