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Updated: Jan 10, 2026

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在希腊遗传性性的遗传景观

Georgios Koutsis1, Viorica Chelban2,3, Chrisoula Kartanou1

  • 1Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Clinical genetics
|November 24, 2025
PubMed
概括

基因测试在60.7%的希腊遗传性性 (HSP) 患者中确定了致病变体,揭示了7种新变体和18种涉及的基因. 这项研究增强了对HSP的理解.

关键词:
在MLPA中,我们可以使用MLPA.希腊 希腊 希腊 希腊 希腊 希腊希腊人口 希腊人口.遗传性性残残疾人遗传性残疾人下一代测序的下一代测序.整体-exome-sequencing 序列化 整体-exome-sequencing 序列化 整体-exome-sequencing 序列化 序列化

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