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Updated: Jun 7, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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稀な神経発達状態における一般的な変異の役割の検討

Qin Qin Huang1, Emilie M Wigdor1, Daniel S Malawsky1

  • 1Wellcome Sanger Institute, Hinxton, UK.

Nature
|November 20, 2024
PubMed
まとめ

一般的な遺伝的変異は 希少な神経発達疾患の危険に寄与する. 患者と親の多遺伝的リスクは,直接的および間接的な遺伝的影響を示唆し,同時に一般的なおよび珍しい変異の分析の必要性を強調しています.

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