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Updated: Sep 17, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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在家族性多发性硬化症中增加了GWAS相关基因罕见变异的负担

Aleksander Turk1,2, Aleš Maver1, Peter Juvan1

  • 1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Scientific reports
|July 1, 2025
PubMed
概括

多发性硬化症 (MS) 相关基因中的罕见遗传变异显著增加了家族性MS风险. 这项研究强调了这些罕见变异在家族性MS患者遗传倾向中的作用.

关键词:
负担分析 负担分析候选基因是一个候选基因.多发性硬化症是多发性硬化症.罕见的病理变化 罕见的病理变化罕见的变种 罕见的变种整体外基因组测序 (WES) 测序

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