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. 2023 Jun 15;13:9737. doi: 10.1038/s41598-023-36654-8

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Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Testing strategy for the diagnosis of GAA-FGF14 ataxia. The number of samples in the French Cohort of 53 index patients processed at each step is indicated in the red circles. Normal alleles have (GAA)_<250 repeats and expanded alleles have (GAA)_≥250 repeats. *Two expanded alleles are possible. N allele, normal allele < 250 repeat units; LR-PCR, long-range polymerase chain reaction; RP-PCR, repeat-primed PCR.