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Updated: Jul 8, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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在神经发育障碍中优先考虑de novo潜在的非法典拼接变体

Kuokuo Li1, Jifang Xiao2, Zhengbao Ling3

  • 1Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No 81 Meishan Road, Hefei, 230032, Anhui, China; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, No 81 Meishan Road, Hefei, 230032, Anhui, China.

EBioMedicine
|December 19, 2023
PubMed
概括

非正规拼接变体 (NCSV) 在神经发育障碍 (NDD) 中很常见,有助于疾病病理. 这项研究揭示了它们在未解决NDD患者中的重要作用和临床重要性.

关键词:
一个新的变种De novo变种.一个微型的基因神经发育障碍 神经发育障碍非正典的拼接方式

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