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Germline de novo variants in CSNK2B in Chinese patients with epilepsy

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 prob...

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Detalles Bibliográficos
Autores principales: Li, Jinliang, Gao, Kai, Cai, Shuying, Liu, Yin, Wang, Yuzhen, Huang, Shaoping, Zha, Jian, Hu, Wenjing, Yu, Shujie, Yang, Zhixian, Xie, Han, Yan, Huifang, Wang, Jingmin, Wu, Ye, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884442/
https://www.ncbi.nlm.nih.gov/pubmed/31784560
http://dx.doi.org/10.1038/s41598-019-53484-9