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用小基因试验验证SLC26A4基因中罕见变异的拼接效应

Yixin Zhao1, Yan Long2, Tao Shi1

  • 1Department of Otorhinolaryngology-Head and Neck Surgery, Peking University People's Hospital, No.11 Xizhimen South Street, Beijing, 100044, China.

BMC medical genomics
|September 28, 2024
PubMed
概括

这项研究确定了SLC26A4基因中可能存在的致病变体,导致两名患者的前庭水道扩大和听力损失. 迷你基因测试证实了这些变异对mRNA剪接的影响,从而进一步了解遗传性听力损失.

关键词:
在SLC26A4基因.扩大的前置水道.听力损失 听力损失一个微型的基因

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