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Updated: May 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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与单一性帕金森病相关的致病基因变异的特定人群差异

Victor Flores-Ocampo1,2,3, Amanda Wei-Yin Lim1,2,4, Natalia S Ogonowski1,2

  • 1Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.

Genes
|April 26, 2025
PubMed
概括

帕金森病 (PD) 的遗传变异显示出全球显著的差异. 这项研究突出了单一性PD基因的种群特异性等位基因频率,强调了对多样化的遗传研究的需求.

关键词:
家庭性帕金森病的发生.全球人口全球人口.这是一个GnomADAD.一种单一的帕金森病.病原性变体的病原性变体

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