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Updated: Jun 6, 2026

Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study
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Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study

Published on: July 27, 2016

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[从基因到细胞:对RYR1变异的功能验证]

Robin Reynaud Dulaurier1, Julie Brocard1, John Rendu2

  • 1Université Grenoble Alpes, Inserm U1216, Grenoble Institut Neurosciences, Grenoble, France.

Medecine sciences : M/S
|November 18, 2024
PubMed
概括

罕见疾病的遗传查通常会遇到一个障碍,即未知意义的变异 (VUS). 该项目开发了一种人工智能驱动的管道,以准确分类RYR1基因变异,改善神经肌肉疾病的诊断.

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Functional Characterization of Endogenously Expressed Human RYR1 Variants

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