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Updated: Jun 15, 2025

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
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Published on: January 31, 2025

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CC2D1A会导致纤毛病,智力障碍,异质性,功能障碍,以及中枢神经液的异常流动

Angelina Haesoo Kim1, Irmak Sakin2,3, Stephen Viviano1

  • 1Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA.

Life science alliance
|August 21, 2024
PubMed
概括

在智力和发育障碍患者中发现了CC2D1A基因的新型变异. 这项研究揭示了CC2D1AA.

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