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Updated: May 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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病例报告:基因分析揭示了威尔逊病和亚历山大病的同时发生

Shufan Ge1, Lanting Sun1, Han Wang1,2

  • 1Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Anhui University of Chinese Medicine, Hefei, China.

Frontiers in neurology
|March 27, 2025
PubMed
概括

这是第一例报告儿童同时患有威尔逊病 (WD) 和亚历山大病 (AxD) 的病例. 基因测试证实了ATP7B和GFAP基因的突变,突出了全面诊断的必要性.

关键词:
亚历山大病就是亚历山大病.威尔逊病是威尔逊病的一种疾病.竞争 竞争 竞争 竞争 竞争诊断 诊断 诊断 诊断 诊断 诊断白质病变 - 白质病变的病变

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