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Updated: Jan 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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扩大β-曼诺化病的表型谱

Angela M Martin Rios1, Liliane H Gibbs2, Karolina M Stepien3

  • 1Division of Genetics, Department of Pediatrics, University of California, Irvine, Orange, CA.

Neurology. Genetics
|November 14, 2025
PubMed
概括

这项研究详细介绍了超罕见的溶酶体储存障碍β-mannosidosis的新临床特征和脑成像发现. 它扩大了对疾病的理解.

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