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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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与TTN的突变相关的先天性titinopathies仅用于元转录的外显子

Aurélien Perrin1,2, Rocio Garcia-Uzquiano3, Tanya Stojkovic4

  • 1Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.

International journal of molecular sciences
|December 17, 2024
PubMed
概括

由MTT-only外显子中的TTN基因变异引起的先天性titinopathies,呈现出从胎儿致死性到严重先天性肌肉病变的多样化表型. 这项研究建立了关键的基因型-表型相关性,以改善诊断和理解.

关键词:
关节形的情况.遗传性心脏病 遗传性心脏病 遗传性心脏病遗传学 遗传学 遗传学 是一个骨髓病变是一种神经病变.神经学 神经学 神经学

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