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Updated: Jun 18, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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在MARVELD2中出现的新型组合异合体变体,导致两个中国家庭的自体逆行性听力损失

Xinyu Shi1, Xiaozhou Liu1, Yanjun Zong1

  • 1Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration, Wuhan, China.

Molecular genetics & genomic medicine
|July 30, 2024
PubMed
概括

MARVELD2基因的突变与遗传性听力损失有关. 这项研究确定了三种变异,包括一种致病突变,扩大了对非综合征性听力损失的理解.

关键词:
奇迹世界2 奇迹世界听力损失 听力损失是什么有针对性的下一代测序.三细胞素三细胞素是什么

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