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Elucidating hexanucleotide repeat number within the X-linked dystonia-parkinsonism (XDP)-related SVA retrotransposon in TAF1 with Nanopore sequencing

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NIAID Data Ecosystem2026-03-13 收录
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In this study, we investigate the full-length TAF1 SVA and used a multiplexed Nanopore sequencing approach to analyze the hexanucleotide repeat number, repeat motif interruptions and Single nucleotide variants besides the hexanucleotide repeat domain in 96 patients with XDP.

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2022-02-23
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