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Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

BACKGROUND: Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a...

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Podrobná bibliografie
Vydáno v:Hum Genomics
Hlavní autoři: Zhang, Linlin, Gao, Jinshuang, Liu, Hailiang, Tian, Yuan, Zhang, Xiaoli, Lei, Wei, Li, Ying, Guo, Yaqing, Yu, Haiyang, Yuan, Erfeng, Liang, Lisi, Cui, Shihong, Zhang, Xiaoan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7720389/
https://ncbi.nlm.nih.gov/pubmed/33287870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-020-00294-0
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