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Updated: Sep 19, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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基因多样性和扩展的表型在dystonia:从大规模的exome测序的见解

Mirja Thomsen1, Fabian Ott2, Sebastian Loens3

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Annals of clinical and translational neurology
|June 19, 2025
PubMed
概括

基因外体序列测定确定了与 dystonia 相关的 51 个基因中的新变异,改善了这种复杂运动障碍的诊断产量. 这项研究有助于人们更好地理解 dystonia 的现象.

关键词:
迪斯托尼亚 (Dystonia) 是一种精神疾病.外基因组测序是指外基因组的测序.遗传异质性的遗传异质性病原性变体的病原性变体

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