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Clinical Characteristics and Induced Pluripotent Stem Cells (iPSCs) Disease Model of Harel-Yoon Syndrome Caused by Compound Heterozygous ATAD3A Variants

2024-12-02

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<title>Abstract</title> ATPase family AAA-domain-containing protein 3A (ATAD3A) is enriched on the mitochondrial membrane and is essential to the maintenance of mitochondrial structure and function. Variants of the ATAD3A gene can lead to Harel-Yoon syndrome (HAYOS), a developmental defect in neurological, cardiovascular, and other systems. This study aims to develop induced pluripotent stem cells (iPSCs) from...

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Literature Corpus work: 9b56a221-edf7-521a-8f5d-3946f152f2fa
DOI: 10.21203/rs.3.rs-5370879/v1

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