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Updated: Sep 14, 2025

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来自希腊队列的exome测序的二次发现

Charilaos Kostoulas1, Athanasia Sesse1, Ioanna Bouba1

  • 1Laboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.

Current issues in molecular biology
|July 23, 2025
PubMed
概括

希腊的外基因测序在4.3%的个体中发现了可操作基因的致病变体. 这项研究突出了关键的遗传风险,并为遗传性疾病的国家查计划提供了信息.

关键词:
在ACMG/AMP指南中.外基因组测序是指外基因组的测序.遗传测试 遗传测试 遗传测试是一种二次性发现二次性发现

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