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Updated: Sep 14, 2025

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
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ATXN2中间CAG重复,9bp重复和替代拼接对SCA3病原学的影响

Marilena Lauerer1,2, Jennifer Faber3,4,5, Nicolas Casadei1,6

  • 1Institute for Medical Genetics and Applied Genomics, University of Tübingen, Nägelestraße 5, 72074, Tübingen, Germany.

Acta neuropathologica communications
|July 19, 2025
PubMed
概括

基因ATAXIN-2 (ATXN2) 影响3型脊髓小脑性瘤性瘤 (SCA3) 疾病进展和症状. 在ATXN2中的遗传变异,包括重复长度和重复,影响SCA3发病和临床表现.

关键词:
在ATXN2中使用.基因修饰剂 基因修饰剂基因型-表型相关性相关性在MJD中,MJD是MJD.在SCA3中,SCA3是SCA3.

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