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Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study
Genetic Testing and Molecular Biomarkers ( IF 1.1 ) Pub Date : 2020-10-15 , DOI: 10.1089/gtmb.2020.0145
Zhangyan Shi 1 , Xueping Jia 2 , Yajie Tian 2 , Xiaofen Liu 2 , Juanjuan Bai 3 , Yanan Liu 3 , Fuchang Zhang 4 , Junlin Li 1, 2 , Xiaocai Gao 4 , Kejin Zhang 1, 2
Affiliation  

Background: Mutations within the myotubularin-related protein 9 gene (MTMR9) have been identified in several families with nonsyndromic intellectual disability (NSID), a generalized neurodevelopmental disorder; however, the relationship between MTMR9 and NSID needs to be verified using a larger sample size.

中文翻译:

MTMR9基因的遗传变异与非特异性智力障碍相关联:基于家庭的协会研究。

背景:已经在几个非综合征性智障(NSID)的家族中鉴定出了肌微管蛋白相关蛋白9基因( MTMR 9)内的突变,NSID是一种普遍的神经发育障碍。但是,需要使用更大的样本量来验证MTMR 9和NSID之间的关系。
更新日期:2020-10-17
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