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在三十种罕见变异基因型中,自闭症领域的比较

Nabila M H Ali1, Samuel J R A Chawner1, Leila Kushan-Wells2

  • 1Division of Psychological Medicine and Clinical Neurosciences, Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK.

EBioMedicine
|February 1, 2025
PubMed
概括

罕见的遗传变异增加了自闭症的可能性,单基因变异 (SGVs) 显示出比神经发育风险副本数变异 (ND-CNVs) 的更高的患病率和更大的损伤. 基因型本身对自闭症表型的预测价值有限.

关键词:
自闭症 自闭症 自闭症副本编号变体 (CNVs) 的变体罕见的遗传变异 罕见的遗传变异单基因变异 (SGVs) 是一种单基因变异.

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