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Updated: Jun 6, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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心脏通道病变中的副本数变异:在常规心律失常诊断中仍然是一个缺失的部分

Maria Gnazzo1, Giovanni Parlapiano2, Francesca Di Lorenzo2

  • 1Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

Biomolecules
|November 27, 2024
PubMed
概括

副本数变异 (CNVs) 在遗传性心脏通道病变中至关重要,通常会被标准遗传检测遗漏. 识别KCNQ1,KCNH2,SCN5A和RYR2等基因中的CNV揭示了不同的临床表型,并有助于风险人群的诊断.

关键词:
布鲁加达布鲁加达布鲁加达катехоламинергический多形室内心动脉障碍症多形室内心动脉障碍道病变 (channelopathies) 是一种通道病变.副本编号变体 副本编号变体长时间的QT.

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