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Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individual...

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Detalles Bibliográficos
Autores principales: Wang, Yimin, Du, Xiaonan, Bin, Rao, Yu, Shanshan, Xia, Zhezhi, Zheng, Guo, Zhong, Jianmin, Zhang, Yunjian, Jiang, Yong-hui, Wang, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225856/
https://www.ncbi.nlm.nih.gov/pubmed/28074849
http://dx.doi.org/10.1038/srep40319