关于骨肌肉α-actin (ACTA1) 基因中报告的变异的最新情况

Joshua S Clayton1,2, Mridul Johari1,2,3, Rhonda L Taylor1,2

  • 1Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

Human mutation
|April 14, 2025
PubMed
概括

对于肌肉功能至关重要的ACTA1基因有607个已报告的变异,其中447个现在被归类为致病性. 这项研究完善了变体解释,并扩大了对ACTA1相关肌肉疾病的理解.

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