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. 2022 Apr 8;13:868655. doi: 10.3389/fneur.2022.868655

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Copyright © 2022 Katz, Garton, Davis, Henderson and McCombe.

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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DNA sequence chromatogram for patient 1. (A) Normal control mRNA. (B) Patient 1 mRNA showing loss of exon 5 donor splice site resulting in intron inclusion and premature termination of protein due to presence of stop codon in variant mRNA.