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Updated: Jun 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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在与骨纤维病变相关的IFT140基因中存在复合异合体变异

Katia Margiotti1, Marco Fabiani1, Antonella Cima1

  • 1Laboratorio di Genetica Umana, Altamedica, Viale Liegi 45, 00198 Rome, Italy.

Diagnostics (Basel, Switzerland)
|November 27, 2024
PubMed
概括

骨纤毛病,影响纤毛的罕见遗传疾病,导致骨发育问题. 这项研究确定了IFT140基因中的新突变,扩大了对这些疾病的理解,并有助于产前诊断.

关键词:
临床外基因组测序 (CES) 临床外基因组测序产前诊断 产前诊断 产前诊断骨纤维病变 - 骨纤维病变

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