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Updated: Jan 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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伪主导继承双边RFC1扩展-重新审视3p22-p24 HSN1B位置

Bianca R Grosz1,2, Melina Ellis1,2, Shuchi Trivedi1,3

  • 1Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, Australia.

Journal of the peripheral nervous system : JPNS
|October 14, 2025
PubMed
概括

自体递归遗传感官神经病变 (HSN) 是由RFC1基因扩张引起的,而不是自体主导的HSN1B位点. 这一发现纠正了之前的遗传映射,并澄清了HSN的遗传基础.

关键词:
在HSN1B中,它是HSN1B.在 RFC1 中, RFC1 是指 RFC1.遗传性感官神经病变是一种遗传性感官神经病变.长阅读序列的测序.假称占优势的情况.

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