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- W4320920918 abstract "Fig S1. Genetic analyses of the patients and their parents. Through exome sequencing and sequencing chromatogram, we identified the compound heterozygous variants in NM_001199107.1(TBC1D24): c.680G>A, p.Arg227Gln, c.1526-1G>A. c.680G>A has already been reported.2 Both variants were classified as likely pathogenic. Both parents were healthy, unrelated, and carriers of each variant. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W4320920918 date "2023-02-24" @default.
- W4320920918 modified "2023-09-27" @default.
- W4320920918 title "Oral Baclofen Therapy for Multifocal Spinal Myoclonus with <i>TBC1D24</i> Variant" @default.
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- W4320920918 doi "https://doi.org/10.1002/mdc3.13701" @default.
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