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Updated: Jul 24, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在波兰家庭中,在导致智力障碍和的基因中检测到新的潜在致病变体

S Skoczylas1, P Jakiel2, T Płoszaj2

  • 11Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland. sebastian.skoczylas@umed.lodz.pl.

Neurogenetics
|July 5, 2023
PubMed
概括

使用定向下一代测序 (tNGS) 的基因测试确定了核和线粒体DNA (mtDNA) 中的致病变体,导致一些患者的智力障碍 (ID) 和. 需要进一步调查,因为许多病例仍未被诊断出来.

关键词:
是一种病.智力障碍 智力障碍是一种智力障碍.这是下一代测序.病原性变体 病原性变体

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