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Updated: Jun 13, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在霍尔特-奥拉姆综合征中对TBX5误解和拼接变体的功能性表征与in silico预测

Clémence Vanlerberghe1, Anne Sophie Jourdain2, Frédéric Frenois3

  • 1CHU Lille, Centre de Référence des Anomalies du Développement, Lille, France; Univ Lille, CHU Lille, ULR 7364-RADEME-Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, Lille, France.

Genetics in medicine : official journal of the American College of Medical Genetics
|September 13, 2024
PubMed
概括

功能测试重新分类了9种不确定的TBX5变异,作为霍尔特-奥拉姆综合征的致病原体. 这项研究强调了结合生物信息学和生物学的方法对于精确的罕见疾病变体分类的重要性.

关键词:
霍尔特-奥拉姆综合征是什么?一个微型的基因在TBX5中使用TBX5.变体分类的变体分类不确定意义的变体.

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