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Updated: Jun 26, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在三个罕见遗传神经肌肉疾病的病例中发现了新型变异

Wen-Qi Chen1,2,3, Yu-Fan Yuan2,3, Ke-Na Hu2,3

  • 1Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, P.R. China.

Experimental and therapeutic medicine
|May 17, 2024
PubMed
概括

这项研究使用全外因组测序识别了遗传神经肌肉疾病 (IND) 的新遗传变异. 这些发现扩大了IND已知的突变谱,有助于精确的诊断和遗传咨询.

关键词:
与 COL6 相关的变性.两性肌变异症 (Dystrophinopathies) 是一种肌变异症,导致肌变异.遗传的神经肌肉疾病 遗传的神经肌肉疾病性截肢症 4 性截肢症 4整体外因子测序的测序

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