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Updated: Jan 6, 2026

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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整体外体序列测定确定了与非综合征性听力损失相关的MITF基因中一个无意义的致病变体

Farzad Soleimani1, Arash Pooladi1, Masoud Alasvand2

  • 1Cellular and Molecular Research Center Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.

Biochemical genetics
|November 27, 2025
PubMed
概括

一项研究确定了一种致病性MITF基因变异 (c.1180C>T),导致库尔德家庭的非综合征性听力损失. 这种变种仅与听力损伤有关,在异合体和同合体个体中表现出类似的临床表现.

关键词:
遗传的异质性 遗传的异质性听力损失 听力损失在MITF转录因子.整个外基因组的测序.

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