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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一个神秘的CBFB删除-反转扩大了与结骨发育不良症相关的变体的突变谱

Alistair T Pagnamenta1, Mona Hashim1, Joanna Kennedy2

  • 1Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK.

Clinical genetics
|February 2, 2025
PubMed
概括

基因分析揭示了CBFB基因的复杂删除-逆转-删除,证实了它在单骨发育不良 (CCD) 中的作用. 这一发现扩大了已知的CCD遗传原因.

关键词:
核心结合因子复合体核心结合因子复合体这是一个Palindrome.骨发育不良症 骨发育不良症结构变体结构变体

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