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CNP0002720
遗传性耳聋家系PLS1 c.981 G>A新突变导致mRNA剪切异常的机制研究
Source: CNGBdb Project (ID CNP0002720)

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Description: 一遗传性耳聋家系的WES测序的变异数据，包括12个健康人和5个耳聋患者
Data type: Variation
Sample scope: Multiisolate
Relevance: Medical
Submitter: 姚鹏程(Pengcheng Yao); 华大股份
Literatures
  1. PMID: 36537221
Release date: 2022-03-04
Last updated: 2022-02-28