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. 2021 May 4;8(6):1330–1342. doi: 10.1002/acn3.51371

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© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Detection of expanded repeats by LRS and STR‐Scoring method. LRS data for individuals affected with neuromyopathy (red boxes) and healthy individuals (green boxes) was obtained by ONT PromethION sequencing and analyzed using the STR‐Scoring method. A total of 228,281 STRs were screened in genic regions. The Top 5 candidate genes (bottom box) showed that the GGC repeats in the 5’UTR region of the NOTCH2NLC was expanded in three index patients and got a considerable higher score (4.77) than the other candidate genes.