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Article

TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.

Gene - 5 May 2021

Cheng Hao-Ling, Dong Hai-Lin, Liu De-Shan, Ni Wang, Ma Yin, Yang Lu, Du Yi-Chu, Chen Dian-Fu, Dong Yi, Wu Zhi-Ying

Abstract excerpt

OBJECTIVE: To investigate whether TGM6 is a specific causative gene for spinocerebellar ataxia type 35 (SCA35). MATERIALS AND METHODS: The next-generation sequencing (NGS) data consisted of 47 SCA, 762 non-SCA patients and 2827 normal controls were analyzed. The allele frequencies of low frequent and deleterious TGM6 variants were compared. Functional studies were performed in five widely distributed variants...

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PMID: 33588035
DOI: 10.1016/j.gene.2021.145495

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