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Updated: Sep 12, 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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扩大P3H1相关骨质生成不完美的基因型和表型谱

Erdem Kındış1, Enise Avcı Durmuşaliğlu2, Elif Eviz3

  • 1Medical Genetics Clinic, Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey. erdem9217@gmail.com.

Calcified tissue international
|August 5, 2025
PubMed
概括

这项研究揭示了骨质发育不完善 (OI) 严重程度的显著变化,即使在具有相同P3H1基因变异的个体中也是如此. 它识别了新的基因突变,扩大了对P3H1相关OI的理解.

关键词:
与P3H1相关的OI与P3H1有关.国家储备系统 (NGS)小说变体的新变体表型变异的表型变化

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