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Updated: Jan 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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通过对区域人口的研究来研究罕见疾病负载

Élisa Michel1,2, Claudia Moreau1,2, Laurence Gagnon1,2

  • 1Département des sciences fondamentales, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.

PLoS genetics
|October 16, 2025
PubMed
概括

这项研究引入了区域人口方法来识别北克罕见遗传疾病变体. 它发现了新的创始人变异,有助于进行载体测试和诊断孟德尔病.

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Published on: January 16, 2019

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