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Updated: Jul 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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巨头症和发育迟缓是由RAB5C中的误解变体引起的

Klaas Koop1, Weimin Yuan2, Federico Tessadori3

  • 1Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Human molecular genetics
|August 8, 2023
PubMed
概括

在RAB5C中出现的新变异与神经发育障碍有关. 错误的变体会导致大脑症和发育迟缓,而功能丧失的变体会导致严重的和智力障碍.

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