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基因研究的回报结果显示,有21532名患有自闭症的人

Jessica R Wright1, Irina Astrovskaya2, Sarah D Barns1

  • 1Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.

Genetics in medicine : official journal of the American College of Medical Genetics
|July 3, 2024
PubMed
概括

研究人员通过SPARK研究确定了1903年可能的致病性 (LP) 和致病性 (P) 遗传变体,1861年患有自闭症的个体. 大多数变异对参与者来说都是新的,诊断结果被返回给超过一半的接触者.

关键词:
自闭症 自闭症 自闭症临床遗传学 临床遗传学外体序列排序是如何进行的神经发育条件 神经发育条件结果的返回结果的返回

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