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Updated: Jun 16, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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尼布林的结构变化及其对表型和遗传的影响:通过大量删除引起的主导远端表型的建立

Lydia Sagath1,2, Kirsi Kiiski1,3, Kireshnee Naidu4

  • 1Folkhälsan Research Center, Helsinki, Finland.

European journal of human genetics : EJHG
|June 14, 2025
PubMed
概括

蛋白基因 (NEB) 的结构变异会导致尼马林肌肉病变和远部肌肉病变. 这项研究详细介绍了35个家族,确定了大型NEB删除和较轻微的远端肌肉病变形式之间的新联系.

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