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Updated: Jun 7, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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基因组聚合数据库版本4 - 同基因基因频率变化和对变异解读的影响在dystonia

Elisabetta Indelicato1,2,3, Anna Eberl1, Sylvia Boesch1

  • 1Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

Movement disorders : official journal of the Movement Disorder Society
|November 21, 2024
PubMed
概括

新的基因组聚合数据库 (gnomAD) v4包含了更多的变异,影响了 dystonia 基因解释. 一些致病性 dystonia 变体现在出现在 gnomAD v4 中,强调需要仔细评估变体.

关键词:
在KMT2B中,KMT2B是KMT2B.代基因的频率是什么?迪斯托尼亚 (Dystonia) 是一种精神疾病.这是一个GnomADAD.变体解释变体解释

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