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. 2022 Mar 9;15:815695. doi: 10.3389/fnmol.2022.815695

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Copyright © 2022 Fröhlich, Pfaff, Bubb, Koks and Quinn.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The expression of several gene isoforms at the MAPT locus is associated with SVA_67 genotype. Association of SVA_67 genotype with expression of isoform MAPT-208 (A), KANSL1-214 (B), LRRC37A-202 (C), CRHR1-205 (D), PLEKHM1-212 (E) and ARL17A-203 (F) was analysed by the presence or absence of the SVA RIP (AA, PA, PP) using the NYGC ALS cohort. Wilcoxon test was applied to demonstrate statistical significance indicated as asterisks. *P ≤ 0.05, **P ≤ 0.01, ***P ≤ 0.001, ****P ≤ 0.0001, ns > 0.05.