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Updated: May 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在FOXI3基因的新型变异证实其在Oculo-Auriculo-脊椎频谱的含义

Angèle Sequeira1, Thomas Sagardoy2,3, Laetitia Bourgeade3

  • 1Univ. Bordeaux, INSERM, MRGM, U1211, Bordeaux, France. angela.sequeira@u-bordeaux.fr.

European journal of human genetics : EJHG
|March 25, 2025
PubMed
概括

FOXI3基因中的遗传变异与眼睛-耳道-脊椎谱有关. 发现了一种影响其核部位的新型FOXI3变异,这突显了该地区在疾病中的重要性.

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