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Updated: Jul 1, 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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异合的MAP3K20变体会导致外皮发育不良,头骨突,神经感官听力损失和四肢异常

Daniel Brooks1, Elizabeth Burke2, Sukyeong Lee3,4

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

Human genetics
|March 7, 2024
PubMed
概括

在MAP3K20中异体变异会导致影响发育的新发育障碍,包括骨突变和四肢异常. 这扩大了已知的先天性异常的遗传原因,揭示了新的基因型-表型相关性.

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