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Updated: Feb 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在患有多系统蛋白质病症和相关疾病的中国患者中,遗传谱和表型变异性

Xingyu Xia1,2,3, Xi Chen1,2, Yiming Sun1,2

  • 1Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, People's Republic of China.

Degenerative neurological and neuromuscular disease
|February 25, 2026
PubMed
概括

在29名中国患者中发现了多系统蛋白质病变 (MSP) 的遗传变异,主要影响男性,并呈现ALS,IBM或FTD. 下一代测序有助于诊断这些复杂的神经肌肉和认知障碍.

关键词:
附录A11 附录A11 附录A11 附录A11 附录A11 附录A11骨髓缩侧面硬化症 (ALS) 是一种包容性 身体肌肉病 身体肌肉病多系统蛋白质病变 多系统蛋白质病变神经退行症的神经退行症

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