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Updated: Jun 18, 2025

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新型ADPRHL2异合体变体导致疾病的病原性变异

Shuang Yan1, Jie Ren2, Hongting Su1

  • 1Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.

Heliyon
|August 5, 2024
PubMed
概括

在ADPRHL2基因的新化合物异构基因突变导致儿童发病的神经退行症与可变性和 (CONDSIAS),一种罕见而严重的神经疾病.

关键词:
在 ADPRRHL2 中.ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3ARH3这是一个很好的条件.在 PAR PAR PAR 里面.

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